Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 22073 deletion NM_004562.2(PARK2):c.172-?_871+?del -1 MedGen:C1868675,OMIM:600116 6 162206804 162683797 na na 22073 deletion NM_004562.2(PARK2):c.172-?_871+?del -1 MedGen:C1868675,OMIM:600116 6 161785772 162262765 na na 22074 deletion NM_004562.2(PARK2):c.413-?_534+?del -1 MedGen:C1868675,OMIM:600116 6 162622163 162622284 na na 22074 deletion NM_004562.2(PARK2):c.413-?_534+?del -1 MedGen:C1868675,OMIM:600116 6 162201131 162201252 na na 22075 single nucleotide variant NM_004562.2(PARK2):c.719C>G (p.Thr240Arg) 137853054 MedGen:C1868675,OMIM:600116 6 162394349 162394349 G C 22075 single nucleotide variant NM_004562.2(PARK2):c.719C>G (p.Thr240Arg) 137853054 MedGen:C1868675,OMIM:600116 6 161973317 161973317 G C 22076 single nucleotide variant NM_004562.2(PARK2):c.931C>T (p.Gln311Ter) 137853055 MedGen:C1868675,OMIM:600116 6 161990389 161990389 G A 22076 single nucleotide variant NM_004562.2(PARK2):c.931C>T (p.Gln311Ter) 137853055 MedGen:C1868675,OMIM:600116 6 161569357 161569357 G A 22077 single nucleotide variant NM_004562.2(PARK2):c.245C>A (p.Ala82Glu) 55774500 MedGen:C1868675,OMIM:600116 6 162683724 162683724 G T 22077 single nucleotide variant NM_004562.2(PARK2):c.245C>A (p.Ala82Glu) 55774500 MedGen:C1868675,OMIM:600116 6 162262692 162262692 G T 22078 deletion PARK2, DEL -1 Gene:6765,MedGen:C0919267,OMIM:167000,SNOMED CT:C0919267 na -1 -1 na na 22079 deletion NM_004562.2(PARK2):c.8-?_171+?del -1 MedGen:C1868675,OMIM:600116 6 162864342 162864505 na na 22079 deletion NM_004562.2(PARK2):c.8-?_171+?del -1 MedGen:C1868675,OMIM:600116 6 162443310 162443473 na na 22080 deletion NM_004562.2(PARK2):c.872-?_1083+?del -1 MedGen:C1868675,OMIM:600116 6 161969886 161990448 na na 22080 deletion NM_004562.2(PARK2):c.872-?_1083+?del -1 MedGen:C1868675,OMIM:600116 6 161548854 161569416 na na 22081 single nucleotide variant NM_004562.2(PARK2):c.1358G>A (p.Trp453Ter) 137853056 MedGen:C1868675,OMIM:600116 6 161771171 161771171 C T 22081 single nucleotide variant NM_004562.2(PARK2):c.1358G>A (p.Trp453Ter) 137853056 MedGen:C1868675,OMIM:600116 6 161350139 161350139 C T 22082 single nucleotide variant NM_004562.2(PARK2):c.483A>T (p.Lys161Asn) 137853057 MedGen:C1868675,OMIM:600116 6 162622214 162622214 T A 22082 single nucleotide variant NM_004562.2(PARK2):c.483A>T (p.Lys161Asn) 137853057 MedGen:C1868675,OMIM:600116 6 162201182 162201182 T A 22083 deletion PARK2, 1-BP DEL, 202A -1 MedGen:C1868675,OMIM:600116 na -1 -1 na na 22084 deletion NM_004562.2(PARK2):c.735-?_871+?del -1 MedGen:C1868675,OMIM:600116 6 162206804 162206940 na na 22084 deletion NM_004562.2(PARK2):c.735-?_871+?del -1 MedGen:C1868675,OMIM:600116 6 161785772 161785908 na na 22085 single nucleotide variant NM_004562.2(PARK2):c.635G>A (p.Cys212Tyr) 137853058 MedGen:C1868675,OMIM:600116 6 162394433 162394433 C T 22085 single nucleotide variant NM_004562.2(PARK2):c.635G>A (p.Cys212Tyr) 137853058 MedGen:C1868675,OMIM:600116 6 161973401 161973401 C T 22086 single nucleotide variant NM_004562.2(PARK2):c.167T>A (p.Val56Glu) 137853059 MedGen:C1868675,OMIM:600116 6 162864346 162864346 A T 22086 single nucleotide variant NM_004562.2(PARK2):c.167T>A (p.Val56Glu) 137853059 MedGen:C1868675,OMIM:600116 6 162443314 162443314 A T 22087 deletion PARK2, 1-BP DEL, 255A -1 MedGen:C1868675,OMIM:600116 na -1 -1 na na 22088 deletion NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del -1 MedGen:C0152013 6 162262766 162727661 na na 22089 single nucleotide variant NM_004562.2(PARK2):c.823C>T (p.Arg275Trp) 34424986 MedGen:C0752105;MedGen:C1868675,OMIM:600116 6 162206852 162206852 G A 22089 single nucleotide variant NM_004562.2(PARK2):c.823C>T (p.Arg275Trp) 34424986 MedGen:C0752105;MedGen:C1868675,OMIM:600116 6 161785820 161785820 G A 22090 single nucleotide variant NM_004562.2(PARK2):c.633A>T (p.Lys211Asn) 137853060 MedGen:C1868675,OMIM:600116 6 162394435 162394435 T A 22090 single nucleotide variant NM_004562.2(PARK2):c.633A>T (p.Lys211Asn) 137853060 MedGen:C1868675,OMIM:600116 6 161973403 161973403 T A 22091 deletion PARK2, 1-BP DEL, 1072T -1 MedGen:C1868675,OMIM:600116 na -1 -1 na na 22092 single nucleotide variant NM_004562.2(PARK2):c.7+1G>T 397518439 MedGen:C1868675,OMIM:600116 6 163148693 163148693 C A 22092 single nucleotide variant NM_004562.2(PARK2):c.7+1G>T 397518439 MedGen:C1868675,OMIM:600116 6 162727661 162727661 C A 22093 single nucleotide variant NM_004562.2(PARK2):c.719C>T (p.Thr240Met) 137853054 MedGen:C1868675,OMIM:600116 6 162394349 162394349 G A 22093 single nucleotide variant NM_004562.2(PARK2):c.719C>T (p.Thr240Met) 137853054 MedGen:C1868675,OMIM:600116 6 161973317 161973317 G A 22094 deletion PARK2, EX5-6 DEL -1 MedGen:C1868675,OMIM:600116 na -1 -1 na na 49644 single nucleotide variant NM_004562.2(PARK2):c.1096C>T (p.Arg366Trp) 56092260 MedGen:C1868675,OMIM:600116 6 161807897 161807897 G A 49644 single nucleotide variant NM_004562.2(PARK2):c.1096C>T (p.Arg366Trp) 56092260 MedGen:C1868675,OMIM:600116 6 161386865 161386865 G A 49645 single nucleotide variant NM_004562.2(PARK2):c.1138G>C (p.Val380Leu) 1801582 MedGen:C0752105;MedGen:C1868675,OMIM:600116;MedGen:CN169374 6 161807855 161807855 C G 49645 single nucleotide variant NM_004562.2(PARK2):c.1138G>C (p.Val380Leu) 1801582 MedGen:C0752105;MedGen:C1868675,OMIM:600116;MedGen:CN169374 6 161386823 161386823 C G 49646 single nucleotide variant NM_004562.2(PARK2):c.1180G>A (p.Asp394Asn) 1801334 MedGen:C1868675,OMIM:600116;MedGen:CN169374 6 161781225 161781225 C T 49646 single nucleotide variant NM_004562.2(PARK2):c.1180G>A (p.Asp394Asn) 1801334 MedGen:C1868675,OMIM:600116;MedGen:CN169374 6 161360193 161360193 C T 49647 single nucleotide variant NM_004562.2(PARK2):c.500G>A (p.Ser167Asn) 1801474 MedGen:C0752105;MedGen:C1868675,OMIM:600116;MedGen:CN169374 6 162622197 162622197 C T 49647 single nucleotide variant NM_004562.2(PARK2):c.500G>A (p.Ser167Asn) 1801474 MedGen:C0752105;MedGen:C1868675,OMIM:600116;MedGen:CN169374 6 162201165 162201165 C T 59479 single nucleotide variant NM_004562.2(PARK2):c.1292G>T (p.Cys431Phe) 397514694 MedGen:C1868675,OMIM:600116 6 161771237 161771237 C A 59479 single nucleotide variant NM_004562.2(PARK2):c.1292G>T (p.Cys431Phe) 397514694 MedGen:C1868675,OMIM:600116 6 161350205 161350205 C A 73427 copy number loss GRCh38/hg38 6q26(chr6:162163268-162378349)x1 -1 - 6 162584300 162799381 na na 73427 copy number loss GRCh38/hg38 6q26(chr6:162163268-162378349)x1 -1 - 6 162163268 162378349 na na 73427 copy number loss GRCh38/hg38 6q26(chr6:162163268-162378349)x1 -1 - 6 162504290 162719371 na na 73428 copy number loss GRCh38/hg38 6q26(chr6:162195999-162693004)x1 -1 - 6 162617031 163114036 na na 73428 copy number loss GRCh38/hg38 6q26(chr6:162195999-162693004)x1 -1 - 6 162195999 162693004 na na 73428 copy number loss GRCh38/hg38 6q26(chr6:162195999-162693004)x1 -1 - 6 162537021 163034026 na na 73429 copy number loss GRCh38/hg38 6q26(chr6:162233059-162579288)x1 -1 - 6 162654091 163000320 na na 73429 copy number loss GRCh38/hg38 6q26(chr6:162233059-162579288)x1 -1 - 6 162233059 162579288 na na 73429 copy number loss GRCh38/hg38 6q26(chr6:162233059-162579288)x1 -1 - 6 162574081 162920310 na na 73430 copy number loss GRCh38/hg38 6q26(chr6:162233059-162449396)x1 -1 - 6 162654091 162870428 na na 73430 copy number loss GRCh38/hg38 6q26(chr6:162233059-162449396)x1 -1 - 6 162233059 162449396 na na 73430 copy number loss GRCh38/hg38 6q26(chr6:162233059-162449396)x1 -1 - 6 162574081 162790418 na na 74144 copy number gain GRCh38/hg38 6q26(chr6:161841164-162004649)x3 -1 - 6 162262196 162425681 na na 74144 copy number gain GRCh38/hg38 6q26(chr6:161841164-162004649)x3 -1 - 6 161841164 162004649 na na 74144 copy number gain GRCh38/hg38 6q26(chr6:161841164-162004649)x3 -1 - 6 162182186 162345671 na na 154651 copy number loss GRCh38/hg38 6q26(chr6:162449337-162512065)x1 -1 - 6 162870369 162933097 na na 154651 copy number loss GRCh38/hg38 6q26(chr6:162449337-162512065)x1 -1 - 6 162449337 162512065 na na 154651 copy number loss GRCh38/hg38 6q26(chr6:162449337-162512065)x1 -1 - 6 162790359 162853087 na na 154652 copy number loss GRCh38/hg38 6q26(chr6:162120320-162356161)x1 -1 - 6 162541352 162777193 na na 154652 copy number loss GRCh38/hg38 6q26(chr6:162120320-162356161)x1 -1 - 6 162120320 162356161 na na 154652 copy number loss GRCh38/hg38 6q26(chr6:162120320-162356161)x1 -1 - 6 162461342 162697183 na na 154668 copy number loss GRCh38/hg38 6q26(chr6:162184862-162273766)x1 -1 - 6 162605894 162694798 na na 154668 copy number loss GRCh38/hg38 6q26(chr6:162184862-162273766)x1 -1 - 6 162184862 162273766 na na 154668 copy number loss GRCh38/hg38 6q26(chr6:162184862-162273766)x1 -1 - 6 162525884 162614788 na na 155149 copy number gain GRCh38/hg38 6q26(chr6:162232971-162708613)x3 -1 - 6 162573993 163049635 na na 155149 copy number gain GRCh38/hg38 6q26(chr6:162232971-162708613)x3 -1 - 6 162654003 163129645 na na 155149 copy number gain GRCh38/hg38 6q26(chr6:162232971-162708613)x3 -1 - 6 162232971 162708613 na na 155555 copy number loss GRCh38/hg38 6q26(chr6:162233059-162327256)x1 -1 - 6 162654091 162748288 na na 155555 copy number loss GRCh38/hg38 6q26(chr6:162233059-162327256)x1 -1 - 6 162233059 162327256 na na 155555 copy number loss GRCh38/hg38 6q26(chr6:162233059-162327256)x1 -1 - 6 162574081 162668278 na na 156520 copy number gain GRCh38/hg38 6q26(chr6:162327214-162629368)x3 -1 - 6 162748246 163050400 na na 156520 copy number gain GRCh38/hg38 6q26(chr6:162327214-162629368)x3 -1 - 6 162327214 162629368 na na 156520 copy number gain GRCh38/hg38 6q26(chr6:162327214-162629368)x3 -1 - 6 162668236 162970390 na na 157167 copy number gain GRCh38/hg38 6q26(chr6:162120320-162629371)x3 -1 - 6 162541352 163050403 na na 157167 copy number gain GRCh38/hg38 6q26(chr6:162120320-162629371)x3 -1 - 6 162120320 162629371 na na 157167 copy number gain GRCh38/hg38 6q26(chr6:162120320-162629371)x3 -1 - 6 162461342 162970393 na na 158221 copy number gain GRCh38/hg38 6q26(chr6:162120320-162668371)x3 -1 - 6 162541352 163089403 na na 158221 copy number gain GRCh38/hg38 6q26(chr6:162120320-162668371)x3 -1 - 6 162120320 162668371 na na 158221 copy number gain GRCh38/hg38 6q26(chr6:162120320-162668371)x3 -1 - 6 162461342 163009393 na na 160451 copy number loss GRCh38/hg38 6q26(chr6:162232971-162629368)x1 -1 - 6 162654003 163050400 na na 160451 copy number loss GRCh38/hg38 6q26(chr6:162232971-162629368)x1 -1 - 6 162232971 162629368 na na 160451 copy number loss GRCh38/hg38 6q26(chr6:162232971-162629368)x1 -1 - 6 162573993 162970390 na na 161363 copy number loss GRCh38/hg38 6q26(chr6:162155203-162356161)x1 -1 - 6 162576235 162777193 na na 161363 copy number loss GRCh38/hg38 6q26(chr6:162155203-162356161)x1 -1 - 6 162155203 162356161 na na 161363 copy number loss GRCh38/hg38 6q26(chr6:162155203-162356161)x1 -1 - 6 162496225 162697183 na na 162163 copy number loss GRCh38/hg38 6q26(chr6:162539079-162629312)x1 -1 - 6 162960111 163050344 na na 162163 copy number loss GRCh38/hg38 6q26(chr6:162539079-162629312)x1 -1 - 6 162539079 162629312 na na 162163 copy number loss GRCh38/hg38 6q26(chr6:162539079-162629312)x1 -1 - 6 162880101 162970334 na na 163344 copy number gain GRCh38/hg38 6q26(chr6:162333573-162562135)x4 -1 - 6 162754605 162983167 na na 163344 copy number gain GRCh38/hg38 6q26(chr6:162333573-162562135)x4 -1 - 6 162333573 162562135 na na 163344 copy number gain GRCh38/hg38 6q26(chr6:162333573-162562135)x4 -1 - 6 162674595 162903157 na na 164069 copy number loss GRCh38/hg38 6q26(chr6:161692328-161930607)x1 -1 - 6 162113360 162351639 na na 164069 copy number loss GRCh38/hg38 6q26(chr6:161692328-161930607)x1 -1 - 6 161692328 161930607 na na 164069 copy number loss GRCh38/hg38 6q26(chr6:161692328-161930607)x1 -1 - 6 162033350 162271629 na na 164721 copy number gain GRCh38/hg38 6q26(chr6:162232971-162629368)x3 -1 - 6 162654003 163050400 na na 164721 copy number gain GRCh38/hg38 6q26(chr6:162232971-162629368)x3 -1 - 6 162232971 162629368 na na 164721 copy number gain GRCh38/hg38 6q26(chr6:162232971-162629368)x3 -1 - 6 162573993 162970390 na na 196258 single nucleotide variant NM_004562.2(PARK2):c.1017G>A (p.Ala339=) 546676036 MedGen:CN169374 6 161969952 161969952 C T 196258 single nucleotide variant NM_004562.2(PARK2):c.1017G>A (p.Ala339=) 546676036 MedGen:CN169374 6 161548920 161548920 C T 216079 copy number loss NC_000006.11:g.(?_162780748)_(163001030_?)del -1 - 6 162780748 163001030 na na 216082 copy number loss NC_000006.11:g.(?_162519220)_(162710973_?)del -1 - 6 162519220 162710973 na na 223400 copy number loss NC_000006.11:g.162093140_162459571del366432 -1 MedGen:C0085215,SNOMED CT:C0085215 6 162093140 162459571 na na 239896 single nucleotide variant NM_004562.2(PARK2):c.1071C>G (p.Gly357=) 878854707 MedGen:C1868675,OMIM:600116 6 161548866 161548866 G C 239896 single nucleotide variant NM_004562.2(PARK2):c.1071C>G (p.Gly357=) 878854707 MedGen:C1868675,OMIM:600116 6 161969898 161969898 G C 252218 single nucleotide variant NM_004562.2(PARK2):c.413-20T>C 4709583 MedGen:CN169374 6 162622304 162622304 A G 252218 single nucleotide variant NM_004562.2(PARK2):c.413-20T>C 4709583 MedGen:CN169374 6 162201272 162201272 A G 265741 single nucleotide variant NM_004562.2(PARK2):c.1000C>T (p.Arg334Cys) 199657839 MedGen:CN169374 6 161969969 161969969 G A 265741 single nucleotide variant NM_004562.2(PARK2):c.1000C>T (p.Arg334Cys) 199657839 MedGen:CN169374 6 161548937 161548937 G A 267741 single nucleotide variant NM_004562.2(PARK2):c.1310C>T (p.Pro437Leu) 149953814 MedGen:CN169374 6 161771219 161771219 G A 267741 single nucleotide variant NM_004562.2(PARK2):c.1310C>T (p.Pro437Leu) 149953814 MedGen:CN169374 6 161350187 161350187 G A 273419 single nucleotide variant NM_004562.2(PARK2):c.48G>A (p.Glu16=) 143477190 MedGen:C0752105;MedGen:CN169374 6 162864465 162864465 C T 273419 single nucleotide variant NM_004562.2(PARK2):c.48G>A (p.Glu16=) 143477190 MedGen:C0752105;MedGen:CN169374 6 162443433 162443433 C T 299551 deletion NM_004562.2(PARK2):c.*2526_*2527delCA 761920927 MedGen:C0752105 6 161347572 161347573 TG - 299551 deletion NM_004562.2(PARK2):c.*2526_*2527delCA 761920927 MedGen:C0752105 6 161768604 161768605 TG - 299552 single nucleotide variant NM_004562.2(PARK2):c.*2443A>G 886061229 MedGen:C0752105 6 161347656 161347656 T C 299552 single nucleotide variant NM_004562.2(PARK2):c.*2443A>G 886061229 MedGen:C0752105 6 161768688 161768688 T C 299558 single nucleotide variant NM_004562.2(PARK2):c.*2354C>T 191130749 MedGen:C0752105 6 161347745 161347745 G A 299558 single nucleotide variant NM_004562.2(PARK2):c.*2354C>T 191130749 MedGen:C0752105 6 161768777 161768777 G A 299566 single nucleotide variant NM_004562.2(PARK2):c.*2217G>A 138660139 MedGen:C0752105 6 161768914 161768914 C T 299566 single nucleotide variant NM_004562.2(PARK2):c.*2217G>A 138660139 MedGen:C0752105 6 161347882 161347882 C T 299567 single nucleotide variant NM_004562.2(PARK2):c.*2022T>C 886061230 MedGen:C0752105 6 161348077 161348077 A G 299567 single nucleotide variant NM_004562.2(PARK2):c.*2022T>C 886061230 MedGen:C0752105 6 161769109 161769109 A G 299575 single nucleotide variant NM_004562.2(PARK2):c.*2021G>A 1122470 MedGen:C0752105 6 161348078 161348078 C T 299575 single nucleotide variant NM_004562.2(PARK2):c.*2021G>A 1122470 MedGen:C0752105 6 161769110 161769110 C T 299576 single nucleotide variant NM_004562.2(PARK2):c.*1252C>T 77926621 MedGen:C0752105 6 161769879 161769879 G A 299576 single nucleotide variant NM_004562.2(PARK2):c.*1252C>T 77926621 MedGen:C0752105 6 161348847 161348847 G A 299579 single nucleotide variant NM_004562.2(PARK2):c.*652C>T 71653629 MedGen:C0752105 6 161770479 161770479 G A 299579 single nucleotide variant NM_004562.2(PARK2):c.*652C>T 71653629 MedGen:C0752105 6 161349447 161349447 G A 299582 single nucleotide variant NM_004562.2(PARK2):c.*314C>A 886061236 MedGen:C0752105 6 161770817 161770817 G T 299582 single nucleotide variant NM_004562.2(PARK2):c.*314C>A 886061236 MedGen:C0752105 6 161349785 161349785 G T 299583 single nucleotide variant NM_004562.2(PARK2):c.*15C>A 35125035 MedGen:C0752105 6 161771116 161771116 G T 299583 single nucleotide variant NM_004562.2(PARK2):c.*15C>A 35125035 MedGen:C0752105 6 161350084 161350084 G T 299589 single nucleotide variant NM_004562.2(PARK2):c.1213G>A (p.Ala405Thr) 886061237 MedGen:C0752105 6 161781192 161781192 C T 299589 single nucleotide variant NM_004562.2(PARK2):c.1213G>A (p.Ala405Thr) 886061237 MedGen:C0752105 6 161360160 161360160 C T 299590 single nucleotide variant NM_004562.2(PARK2):c.783A>G (p.Leu261=) 9456711 MedGen:C0752105 6 162206892 162206892 T C 299590 single nucleotide variant NM_004562.2(PARK2):c.783A>G (p.Leu261=) 9456711 MedGen:C0752105 6 161785860 161785860 T C 302086 single nucleotide variant NM_004562.2(PARK2):c.*2363C>A 12215447 MedGen:C0752105 6 161347736 161347736 G T 302086 single nucleotide variant NM_004562.2(PARK2):c.*2363C>A 12215447 MedGen:C0752105 6 161768768 161768768 G T 302087 single nucleotide variant NM_004562.2(PARK2):c.*1695G>A 77283740 MedGen:C0752105 6 161348404 161348404 C T 302087 single nucleotide variant NM_004562.2(PARK2):c.*1695G>A 77283740 MedGen:C0752105 6 161769436 161769436 C T 302094 single nucleotide variant NM_004562.2(PARK2):c.*1685A>G 187134044 MedGen:C0752105 6 161348414 161348414 T C 302094 single nucleotide variant NM_004562.2(PARK2):c.*1685A>G 187134044 MedGen:C0752105 6 161769446 161769446 T C 302095 single nucleotide variant NM_004562.2(PARK2):c.*1462C>A 11961229 MedGen:C0752105 6 161348637 161348637 G T 302095 single nucleotide variant NM_004562.2(PARK2):c.*1462C>A 11961229 MedGen:C0752105 6 161769669 161769669 G T 302100 single nucleotide variant NM_004562.2(PARK2):c.*1296A>G 3734464 MedGen:C0752105 6 161348803 161348803 T C 302100 single nucleotide variant NM_004562.2(PARK2):c.*1296A>G 3734464 MedGen:C0752105 6 161769835 161769835 T C 302101 single nucleotide variant NM_004562.2(PARK2):c.*1016C>T 886061234 MedGen:C0752105 6 161770115 161770115 G A 302101 single nucleotide variant NM_004562.2(PARK2):c.*1016C>T 886061234 MedGen:C0752105 6 161349083 161349083 G A 302102 single nucleotide variant NM_004562.2(PARK2):c.*820A>T 74701717 MedGen:C0752105 6 161770311 161770311 T A 302102 single nucleotide variant NM_004562.2(PARK2):c.*820A>T 74701717 MedGen:C0752105 6 161349279 161349279 T A 302104 single nucleotide variant NM_004562.2(PARK2):c.*472T>C 886061235 MedGen:C0752105 6 161770659 161770659 A G 302104 single nucleotide variant NM_004562.2(PARK2):c.*472T>C 886061235 MedGen:C0752105 6 161349627 161349627 A G 302107 single nucleotide variant NM_004562.2(PARK2):c.*372C>G 764753874 MedGen:C0752105 6 161770759 161770759 G C 302107 single nucleotide variant NM_004562.2(PARK2):c.*372C>G 764753874 MedGen:C0752105 6 161349727 161349727 G C 302108 duplication NM_004562.2(PARK2):c.*114_*115dupAC 575581029 MedGen:C0752105 6 161771016 161771017 GT GTGT 302108 duplication NM_004562.2(PARK2):c.*114_*115dupAC 575581029 MedGen:C0752105 6 161349984 161349985 GT GTGT 302111 single nucleotide variant NM_004562.2(PARK2):c.1364G>A (p.Arg455His) 748955949 MedGen:C0752105 6 161771165 161771165 C T 302111 single nucleotide variant NM_004562.2(PARK2):c.1364G>A (p.Arg455His) 748955949 MedGen:C0752105 6 161350133 161350133 C T 302116 single nucleotide variant NM_004562.2(PARK2):c.706A>G (p.Ile236Val) 886061238 MedGen:C0752105 6 162394362 162394362 T C 302116 single nucleotide variant NM_004562.2(PARK2):c.706A>G (p.Ile236Val) 886061238 MedGen:C0752105 6 161973330 161973330 T C 302128 single nucleotide variant NM_004562.2(PARK2):c.522C>T (p.Leu174=) 147121590 MedGen:C0752105 6 162622175 162622175 G A 302128 single nucleotide variant NM_004562.2(PARK2):c.522C>T (p.Leu174=) 147121590 MedGen:C0752105 6 162201143 162201143 G A 302129 single nucleotide variant NM_004562.2(PARK2):c.-42T>C 112850281 MedGen:C0752105 6 162727710 162727710 A G 302129 single nucleotide variant NM_004562.2(PARK2):c.-42T>C 112850281 MedGen:C0752105 6 163148742 163148742 A G 306507 single nucleotide variant NM_004562.2(PARK2):c.*2475A>C 868117815 MedGen:C0752105 6 161347624 161347624 T G 306507 single nucleotide variant NM_004562.2(PARK2):c.*2475A>C 868117815 MedGen:C0752105 6 161768656 161768656 T G 306523 single nucleotide variant NM_004562.2(PARK2):c.*1601G>A 779851186 MedGen:C0752105 6 161348498 161348498 C T 306523 single nucleotide variant NM_004562.2(PARK2):c.*1601G>A 779851186 MedGen:C0752105 6 161769530 161769530 C T 306524 single nucleotide variant NM_004562.2(PARK2):c.*1281C>T 571904443 MedGen:C0752105 6 161348818 161348818 G A 306524 single nucleotide variant NM_004562.2(PARK2):c.*1281C>T 571904443 MedGen:C0752105 6 161769850 161769850 G A 306528 single nucleotide variant NM_004562.2(PARK2):c.*1156C>G 886061232 MedGen:C0752105 6 161769975 161769975 G C 306528 single nucleotide variant NM_004562.2(PARK2):c.*1156C>G 886061232 MedGen:C0752105 6 161348943 161348943 G C 306529 deletion NM_004562.2(PARK2):c.*1028_*1029delTC 886061233 MedGen:C0752105 6 161770102 161770103 GA - 306529 deletion NM_004562.2(PARK2):c.*1028_*1029delTC 886061233 MedGen:C0752105 6 161349070 161349071 GA - 306531 single nucleotide variant NM_004562.2(PARK2):c.*301G>C 576586040 MedGen:C0752105 6 161770830 161770830 C G 306531 single nucleotide variant NM_004562.2(PARK2):c.*301G>C 576586040 MedGen:C0752105 6 161349798 161349798 C G 306532 single nucleotide variant NM_004562.2(PARK2):c.1289G>A (p.Gly430Asp) 191486604 MedGen:C0752105 6 161771240 161771240 C T 306532 single nucleotide variant NM_004562.2(PARK2):c.1289G>A (p.Gly430Asp) 191486604 MedGen:C0752105 6 161350208 161350208 C T 306546 single nucleotide variant NM_004562.2(PARK2):c.7+4C>T 749081702 MedGen:C0752105 6 163148690 163148690 G A 306546 single nucleotide variant NM_004562.2(PARK2):c.7+4C>T 749081702 MedGen:C0752105 6 162727658 162727658 G A 306792 single nucleotide variant NM_004562.2(PARK2):c.*1386A>G 140107485 MedGen:C0752105 6 161769745 161769745 T C 306771 single nucleotide variant NM_004562.2(PARK2):c.*2492A>G 117341007 MedGen:C0752105 6 161347607 161347607 T C 306771 single nucleotide variant NM_004562.2(PARK2):c.*2492A>G 117341007 MedGen:C0752105 6 161768639 161768639 T C 306772 single nucleotide variant NM_004562.2(PARK2):c.*2480C>A 68121389 MedGen:C0752105 6 161347619 161347619 G T 306772 single nucleotide variant NM_004562.2(PARK2):c.*2480C>A 68121389 MedGen:C0752105 6 161768651 161768651 G T 306775 single nucleotide variant NM_004562.2(PARK2):c.*2474A>C 886061228 MedGen:C0752105 6 161347625 161347625 T G 306775 single nucleotide variant NM_004562.2(PARK2):c.*2474A>C 886061228 MedGen:C0752105 6 161768657 161768657 T G 306783 single nucleotide variant NM_004562.2(PARK2):c.*2194G>A 149239597 MedGen:C0752105 6 161347905 161347905 C T 306783 single nucleotide variant NM_004562.2(PARK2):c.*2194G>A 149239597 MedGen:C0752105 6 161768937 161768937 C T 306784 single nucleotide variant NM_004562.2(PARK2):c.*1694C>T 16892481 MedGen:C0752105 6 161348405 161348405 G A 306784 single nucleotide variant NM_004562.2(PARK2):c.*1694C>T 16892481 MedGen:C0752105 6 161769437 161769437 G A 306785 single nucleotide variant NM_004562.2(PARK2):c.*1470G>A 886061231 MedGen:C0752105 6 161348629 161348629 C T 306785 single nucleotide variant NM_004562.2(PARK2):c.*1470G>A 886061231 MedGen:C0752105 6 161769661 161769661 C T 306792 single nucleotide variant NM_004562.2(PARK2):c.*1386A>G 140107485 MedGen:C0752105 6 161348713 161348713 T C 306800 deletion NM_004562.2(PARK2):c.*887_*890delGATA 572345942 MedGen:C0752105 6 161770241 161770244 TATC - 306800 deletion NM_004562.2(PARK2):c.*887_*890delGATA 572345942 MedGen:C0752105 6 161349209 161349212 TATC - 306808 single nucleotide variant NM_004562.2(PARK2):c.*98G>A 771094906 MedGen:C0752105 6 161771033 161771033 C T 306808 single nucleotide variant NM_004562.2(PARK2):c.*98G>A 771094906 MedGen:C0752105 6 161350001 161350001 C T 306809 single nucleotide variant NM_004562.2(PARK2):c.111G>A (p.Pro37=) 77795533 MedGen:C0752105 6 162864402 162864402 C T 306809 single nucleotide variant NM_004562.2(PARK2):c.111G>A (p.Pro37=) 77795533 MedGen:C0752105 6 162443370 162443370 C T 306811 single nucleotide variant NM_004562.2(PARK2):c.-30T>C 200065081 MedGen:C0752105 6 163148730 163148730 A G 306811 single nucleotide variant NM_004562.2(PARK2):c.-30T>C 200065081 MedGen:C0752105 6 162727698 162727698 A G 306812 single nucleotide variant NM_004562.2(PARK2):c.-46C>T 369389244 MedGen:C0752105 6 162727714 162727714 G A 306812 single nucleotide variant NM_004562.2(PARK2):c.-46C>T 369389244 MedGen:C0752105 6 163148746 163148746 G A 306813 single nucleotide variant NM_004562.2(PARK2):c.-107G>A 886061239 MedGen:C0752105 6 162727775 162727775 C T 306813 single nucleotide variant NM_004562.2(PARK2):c.-107G>A 886061239 MedGen:C0752105 6 163148807 163148807 C T

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 6 161928772 rs568893 A C rs568893 1.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 6 162047938 rs6914170 C T rs6914170 0.000946 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA T intron GWASdb_drug 6 162064528 rs9456695 G C rs9456695 0.000893 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA G intron GWASdb_drug 6 162127514 rs17596816 G T rs17596816 4.62E-05 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_drug 6 162255535 rs9458393 G T rs9458393 6.00E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_drug 6 162275397 rs12665316 G A rs12665316 5.47E-06 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 G intron GWASdb_drug 6 162314921 rs12207186 A T rs12207186 5.00E-06 IMMUNOGLOBULIN G GLYCOSYLTRANSFERASES IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 A intron GWASdb_drug 6 162486045 rs7744806 T G rs7744806 9.74E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G intron GWASdb_drug 6 162489533 rs4709566 A G rs4709566 8.85E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A,G intron GWASdb_drug 6 162489929 rs2187208 G A rs2187208 9.74E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_drug 6 162520133 rs6901071 T G rs6901071 6.04E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 T intron GWASdb_drug 6 162702534 rs9365397 T C rs9365397 3.42E-05 PACLITAXEL ANTINEOPLASTIC AGENTS|RECEPTORS, EPH FAMILY Paclitaxel-induced neuropathy HPOID:0000763 DOID:2491 T intron GWASdb_drug 6 162746359 rs6930880 C T rs6930880 9.30E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_drug 6 162828192 rs4709606 C T rs4709606 7.97E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_drug 6 162841979 rs10806758 C T rs10806758 3.88E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_drug 6 162869197 rs4708959 G A rs4708959 3.59E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G intron GWASdb_drug 6 162871195 rs10945835 C T rs10945835 2.14E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_drug 6 162904165 rs4493732 T C rs4493732 1.81E-05 CHOLESTEROL CHOLESTEROL, LDL|APOLIPOPROTEIN C-III|TRIGLYCERIDES|CHOLESTEROL, HDL|LIPIDS|DIETARY FATS Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 C intron GWASdb_drug 6 161841791 rs4454114 C T rs4454114 2.98E-05 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 6 161863510 rs9458254 C T rs9458254 9.65E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 161863770 rs9458255 G A rs9458255 9.49E-09 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 G intron GWASdb_trait 6 161888411 rs6903203 G A rs6903203 1.74E-05 Paget's disease HPOID:0000924 DOID:5408 A intron GWASdb_trait 6 161896519 rs16892573 G A rs16892573 6.16E-04 Nicotine smoking HPOID:0000707 DOID:0050742 G intron GWASdb_trait 6 161899244 rs9456676 C T rs9456676 4.26E-04 Iron levels HPOID:0011031 DOID:2351 T intron GWASdb_trait 6 161900199 rs4709531 T C rs4709531 2.61E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 6 161900525 rs9346859 C T rs9346859 1.12E-04 Hearing function HPOID:0000365 DOID:2742 T intron GWASdb_trait 6 161900525 rs9346859 C T rs9346859 1.97E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 6 161902154 rs2315314 T C rs2315314 4.80E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 T intron GWASdb_trait 6 161906107 rs9364599 A G rs9364599 4.95E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 161914659 rs555637 C T rs555637 9.27E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 C intron GWASdb_trait 6 161914659 rs555637 C T rs555637 3.00E-06 Insulin Resistance HPOID:0000855 DOID:9352 C intron GWASdb_trait 6 161914659 rs555637 C T rs555637 9.16E-06 Insulin-related traits HPOID:0011014 DOID:9352 C intron GWASdb_trait 6 161915982 rs992421 C T rs992421 1.56E-08 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 T intron GWASdb_trait 6 161916248 rs10755582 C T rs10755582 2.69E-08 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 T intron GWASdb_trait 6 161916480 rs9458289 C T rs9458289 3.25E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 T intron GWASdb_trait 6 161917337 rs6937817 T C rs6937817 1.71E-08 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 C intron GWASdb_trait 6 161919214 rs12191995 T C rs12191995 7.53E-08 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 T intron GWASdb_trait 6 161923155 rs577876 A G rs577876 1.61E-05 Insulin Resistance HPOID:0000855 DOID:9352 A intron GWASdb_trait 6 161923155 rs577876 A G rs577876 1.58E-05 Insulin-related traits HPOID:0011014 DOID:9352 A intron GWASdb_trait 6 161928356 rs508605 T C rs508605 4.34E-06 Rheumatoid arthritis HPOID:0001370 DOID:7148 T intron GWASdb_trait 6 161928772 rs568893 A C rs568893 1.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 6 161929638 rs201328424 T TG rs541480 2.28E-06 Rheumatoid arthritis HPOID:0001370 DOID:7148 G intron GWASdb_trait 6 161929638 rs541480 T G rs541480 2.28E-06 Rheumatoid arthritis HPOID:0001370 DOID:7148 G intron GWASdb_trait 6 161933935 rs16892673 G A rs16892673 5.00E-06 Aging HPOID:0000118 NA G intron GWASdb_trait 6 161936277 rs475158 G C rs475158 1.30E-05 Urinary metabolites HPOID:0000079 DOID:557 C,G intron GWASdb_trait 6 161944035 rs507499 T C rs507499 1.50E-05 Urinary metabolites HPOID:0000079 DOID:557 T,C intron GWASdb_trait 6 161958165 rs6928997 T G rs6928997 6.12E-05 Insulin Resistance HPOID:0000855 DOID:9352 T intron GWASdb_trait 6 161960834 rs17651062 T A,C rs17651062 1.03E-07 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 T intron GWASdb_trait 6 161963415 rs527960 G A rs527960 4.17E-05 Lung function (forced vital capacity) HPOID:0002088 DOID:850 A intron GWASdb_trait 6 161963415 rs527960 G A rs527960 9.91E-05 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 A intron GWASdb_trait 6 161974304 rs2064419 G T rs2064419 2.23E-05 Serum metabolites HPOID:0011111 NA T intron GWASdb_trait 6 161974706 rs2315321 A T rs2315321 1.96E-05 Serum metabolites HPOID:0011111 NA T intron GWASdb_trait 6 161974956 rs9364602 G A rs9364602 7.41E-05 Serum metabolites HPOID:0011111 NA A intron GWASdb_trait 6 161976974 rs9355908 A G rs9355908 2.89E-05 Job-related exhaustion HPOID:0100543|HPOID:0002360|HPOID:0100851 DOID:3324|DOID:535 A intron GWASdb_trait 6 161981289 rs17573347 T G rs17573347 9.43E-06 Hearing function HPOID:0000365 DOID:2742 T intron GWASdb_trait 6 161988513 rs9456684 G A rs9456684 3.79E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine) HPOID:0001875|HPOID:0001882 DOID:1227 A intron GWASdb_trait 6 161988767 rs9355351 A G rs9355351 5.53E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine) HPOID:0001875|HPOID:0001882 DOID:1227 A intron GWASdb_trait 6 161989903 rs885782 A C rs885782 1.07E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine) HPOID:0001875|HPOID:0001882 DOID:1227 A intron GWASdb_trait 6 161989970 rs17651866 A G rs17651866 9.43E-06 Hearing function HPOID:0000365 DOID:2742 A intron GWASdb_trait 6 161990063 rs737715 T C rs737715 2.00E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 6 161990483 rs3765474 C T rs3765474 5.23E-05 Serum metabolites HPOID:0011111 NA T intron GWASdb_trait 6 161990516 rs3765475 G C rs3765475 8.92E-05 Serum metabolites HPOID:0011111 NA C intron GWASdb_trait 6 161996370 rs7755681 C T rs7755681 2.90E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 161996370 rs7755681 C T rs7755681 3.23E-04 Amyotrophic lateral sclerosis (sporadic) HPOID:0007354 DOID:332 T intron GWASdb_trait 6 161998406 rs2143742 T A rs2143742 4.32E-04 Obesity (extreme) HPOID:0001513 DOID:9970 A intron GWASdb_trait 6 161999398 rs1883875 C G rs1883875 2.70E-04 Obesity (extreme) HPOID:0001513 DOID:9970 C intron GWASdb_trait 6 162001436 rs992037 T C rs992037 1.00E-07 Metabolite levels HPOID:0001939 DOID:655 C intron GWASdb_trait 6 162001436 rs992037 T C rs992037 3.91E-04 Obesity (extreme) HPOID:0001513 DOID:9970 C intron GWASdb_trait 6 162004731 rs994465 G A rs994465 4.24E-04 Obesity (extreme) HPOID:0001513 DOID:9970 A intron GWASdb_trait 6 162006529 rs910177 T A rs910177 2.29E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 162006836 rs9364605 C T rs9364605 2.16E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine) HPOID:0001875|HPOID:0001882 DOID:1227 C intron GWASdb_trait 6 162007822 rs9295157 A C rs9295157 2.35E-04 Obesity (extreme) HPOID:0001513 DOID:9970 A intron GWASdb_trait 6 162010329 rs6927285 G A rs6927285 7.29E-05 Serum metabolites HPOID:0011111 NA G intron GWASdb_trait 6 162010329 rs6927285 G A rs6927285 2.48E-04 Obesity (extreme) HPOID:0001513 DOID:9970 G intron GWASdb_trait 6 162012307 rs6940957 C T rs6940957 4.62E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 162013511 rs9355914 T C rs9355914 5.70E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 162014434 rs6455736 G C rs6455736 5.05E-05 Serum metabolites HPOID:0011111 NA G intron GWASdb_trait 6 162014434 rs6455736 G C rs6455736 5.76E-04 Obesity (extreme) HPOID:0001513 DOID:9970 G intron GWASdb_trait 6 162017174 rs742769 T C rs742769 4.81E-04 Obesity (extreme) HPOID:0001513 DOID:9970 C intron GWASdb_trait 6 162018136 rs2003713 T C rs2003713 5.97E-05 Serum metabolites HPOID:0011111 NA A intron GWASdb_trait 6 162018136 rs2003713 T C rs2003713 6.07E-04 Obesity (extreme) HPOID:0001513 DOID:9970 A intron GWASdb_trait 6 162021640 rs12055483 T C rs12055483 2.36E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 162022492 rs9458314 C T rs9458314 6.28E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 162032087 rs6924602 C T rs6924602 2.30E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 162032127 rs10945759 G T rs10945759 2.56E-04 Obesity (extreme) HPOID:0001513 DOID:9970 G intron GWASdb_trait 6 162038722 rs9456688 T C rs9456688 4.74E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 6 162039061 rs6455737 C T rs6455737 2.77E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 162039898 rs9295158 C T rs9295158 4.76E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 6 162040405 rs6455738 A G rs6455738 4.88E-04 Obesity (extreme) HPOID:0001513 DOID:9970 G intron GWASdb_trait 6 162040460 rs6455739 A G rs6455739 5.09E-04 Obesity (extreme) HPOID:0001513 DOID:9970 G intron GWASdb_trait 6 162041758 rs9355356 A G rs9355356 2.64E-04 Obesity (extreme) HPOID:0001513 DOID:9970 G intron GWASdb_trait 6 162042839 rs9365308 T C rs9365308 9.12E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 6 162058997 rs6455740 T C rs6455740 1.50E-06 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 6 162059082 rs6455741 C A rs6455741 2.90E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 6 162064528 rs9456695 G C rs9456695 0.000893 Salmonella-induced pyroptosis NA NA G intron GWASdb_trait 6 162064609 rs7742460 G A rs7742460 2.84E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 6 162065385 rs6455748 T C rs6455748 1.75E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 6 162087050 rs7771544 C T rs7771544 7.17E-05 Response to mTOR inhibitor (everolimus) HPOID:0002665|HPOID:0005584|HPOID:0003002|HPOID:0100526|HPOID:0012114|HPOID:0100843 DOID:4450|DOID:1612|DOID:3908|DOID:2871|DOID:3068|DOID:0050746 T intron GWASdb_trait 6 162093021 rs9355357 T C rs9355357 2.08E-04 Vaspin levels HPOID:0001513|HPOID:0000855|HPOID:0005978 DOID:9970|DOID:9352 NA intron GWASdb_trait 6 162093021 rs9355357 T C rs9355357 0.000208 Treatment outcomes for selective serotonin reuptake inhibitors (SSRIs) - remission at 8 weeks HPOID:0000716 DOID:1470 NA intron GWASdb_trait 6 162093140 rs10484813 A G rs10484813 8.10E-04 Type 2 diabetes and 6 quantitative traits HPOID:0005978 DOID:9352 T intron GWASdb_trait 6 162096566 rs7739751 T A rs7739751 2.95E-05 Smoking initiation HPOID:0000707 DOID:0050742 A intron GWASdb_trait 6 162115812 rs969760 A G rs969760 3.58E-05 Platelet counts HPOID:0011873 DOID:74|DOID:526|DOID:3393 C intron GWASdb_trait 6 162127514 rs17596816 G T rs17596816 4.62E-05 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_trait 6 162139357 rs6455764 A G rs6455764 9.44E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 6 162157158 rs16892971 C T rs16892971 5.88E-04 Insulin resistance HPOID:0000855 DOID:9352 T intron GWASdb_trait 6 162158268 rs2982903 G A rs2982903 3.35E-05 Socioeconomic Factors NA NA C intron GWASdb_trait 6 162161619 rs926849 C T rs926849 3.00E-08 Disc degeneration (lumbar) HPOID:0008419 DOID:0080007 A intron GWASdb_trait 6 162161666 rs1884158 C T rs1884158 2.68E-04 Cholesterol HPOID:0003107 DOID:2349|DOID:3393|DOID:3146 G intron GWASdb_trait 6 162164600 rs11753802 A G rs11753802 7.08E-05 Kawasaki disease HPOID:0001677 DOID:13378 G intron GWASdb_trait 6 162166163 rs3019447 C A rs3019447 5.46E-05 Kawasaki disease HPOID:0001677 DOID:13378 T intron GWASdb_trait 6 162168506 rs763753 G A rs763753 8.57E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 6 162169823 rs16893004 T C rs16893004 3.00E-04 Polycystic ovary syndrome HPOID:0000147 DOID:11612 T intron GWASdb_trait 6 162170524 rs3019442 G C rs3019442 7.57E-11 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 C intron GWASdb_trait 6 162192856 rs3016563 C A rs3016563 5.39E-11 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 G intron GWASdb_trait 6 162192874 rs3016562 G A rs3016562 5.39E-11 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 C intron GWASdb_trait 6 162192994 rs9458363 G T rs9458363 1.30E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 6 162192994 rs9458363 G T rs9458363 1.15E-11 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 T intron GWASdb_trait 6 162196730 rs9458366 C T rs9458366 6.20E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 6 162199140 rs12208429 T C rs12208429 2.70E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 6 162199157 rs12208431 T G rs12208431 2.70E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 6 162209898 rs3019433 A G rs3019433 6.37E-08 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 T intron GWASdb_trait 6 162210934 rs3016557 T C rs3016557 2.75E-08 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 G intron GWASdb_trait 6 162221720 rs3016551 A G rs3016551 5.68E-08 Metabolite levels HPOID:0001939 DOID:655 T intron GWASdb_trait 6 162236075 rs3016539 C T rs3016539 7.00E-06 Pancreatic cancer HPOID:0006725 DOID:1793 A intron GWASdb_trait 6 162248169 rs2022991 C T rs2022991 1.31E-22 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 A intron GWASdb_trait 6 162255535 rs9458393 G T rs9458393 6.00E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_trait 6 162274381 rs12528179 T C rs12528179 8.44E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 6 162275397 rs12665316 G A rs12665316 5.47E-06 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 G intron GWASdb_trait 6 162279198 rs4279411 A G rs4279411 9.23E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 6 162279573 rs11752805 G A rs11752805 8.93E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 6 162284206 rs2022989 A T rs2022989 2.58E-05 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 6 162288538 rs2022988 C T rs2022988 8.11E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 6 162302398 rs9365334 C G rs9365334 3.20E-06 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 6 162314921 rs12207186 A T rs12207186 5.00E-06 IgG glycosylation HPOID:0010701 DOID:2531|DOID:417 A intron GWASdb_trait 6 162319145 rs9365344 A G rs9365344 2.90E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 6 162319145 rs9365344 A G rs9365344 1.11E-09 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 A intron GWASdb_trait 6 162323997 rs6455783 T C rs6455783 0.000188081 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 T intron GWASdb_trait 6 162328273 rs9347562 T C rs9347562 1.39E-04 Parkinson's disease HPOID:0001300 DOID:14330 A intron GWASdb_trait 6 162340950 rs9365352 C T rs9365352 0.000432233 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 C intron GWASdb_trait 6 162344712 rs9458419 C T rs9458419 1.40E-05 Malaria HPOID:0004386|HPOID:0002315|HPOID:0001945|HPOID:0002829|HPOID:0002013|HPOID:0002018|HPOID:0001878|HPOID:0000952|HPOID:0003641|HPOID:0000480|HPOID:0001279 DOID:12365 T intron GWASdb_trait 6 162345938 rs9458420 G C rs9458420 4.82E-05 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 6 162368885 rs9458424 T C rs9458424 8.11E-05 Age-related macular degeneration HPOID:0007868 DOID:10871 C intron GWASdb_trait 6 162368885 rs9458424 T C rs9458424 1.18E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 C intron GWASdb_trait 6 162371705 rs6902304 G T rs6902304 1.19E-04 Age-related macular degeneration HPOID:0007868 DOID:10871 G intron GWASdb_trait 6 162371705 rs6902304 G T rs6902304 4.67E-05 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 G intron GWASdb_trait 6 162392902 rs11964796 G A rs11964796 1.35E-04 Age-related macular degeneration HPOID:0007868 DOID:10871 A intron GWASdb_trait 6 162406335 rs1623209 C T rs1623209 6.32E-05 Blood Pressure HPOID:0011025 DOID:10763 G intron GWASdb_trait 6 162424579 rs9458428 C T rs9458428 9.08E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 6 162450471 rs2849567 A C rs2849567 0.0003 Normoxic and mild-hypoxic adaptation in populations residing at low and moderate altitudes HPOID:0002795 DOID:2841|DOID:3083 G intron GWASdb_trait 6 162453739 rs1105056 C T rs1105056 3.72E-08 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 G intron GWASdb_trait 6 162465203 rs9458439 C T rs9458439 7.63E-05 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 C intron GWASdb_trait 6 162474893 rs9456734 A G rs9456734 7.45E-11 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 A intron GWASdb_trait 6 162489533 rs4709566 A G rs4709566 8.85E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 A,G intron GWASdb_trait 6 162511254 rs9347586 G A rs9347586 7.92E-05 Body Mass Index HPOID:0001507 DOID:9970 A intron GWASdb_trait 6 162520133 rs6901071 T G rs6901071 6.04E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 T intron GWASdb_trait 6 162529567 rs9355384 C G rs9355384 8.85E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 6 162537866 rs9456744 A G rs9456744 4.69E-05 Job-related exhaustion HPOID:0100543|HPOID:0002360|HPOID:0100851 DOID:3324|DOID:535 G intron GWASdb_trait 6 162539650 rs9456745 A G rs9456745 8.66E-05 Magnesium levels HPOID:0004921 DOID:11977|DOID:13581 A intron GWASdb_trait 6 162541706 rs876145 G T rs876145 7.36E-04 Age-related macular degeneration HPOID:0007868 DOID:10871 A intron GWASdb_trait 6 162564054 rs11963472 T C rs11963472 4.81E-05 Job-related exhaustion HPOID:0100543|HPOID:0002360|HPOID:0100851 DOID:3324|DOID:535 C intron GWASdb_trait 6 162569201 rs6904579 A G rs6904579 5.28E-05 Serum metabolites HPOID:0011111 NA A intron GWASdb_trait 6 162575299 rs869298 C T rs869298 5.27E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil) HPOID:0001875|HPOID:0001882 DOID:1227 C intron GWASdb_trait 6 162577258 rs2849609 C T rs2849609 1.92E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs) HPOID:0001875|HPOID:0001882 DOID:1227 G intron GWASdb_trait 6 162577258 rs2849609 C T rs2849609 3.08E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil) HPOID:0001875|HPOID:0001882 DOID:1227 G intron GWASdb_trait 6 162592495 rs12194653 C T rs12194653 2.55E-04 Menopause (age at onset) HPOID:0100805 DOID:9970|DOID:9352|DOID:1287|DOID:11476|DOID:1612|DOID:10652 C intron GWASdb_trait 6 162605266 rs9355987 T C rs9355987 0.000122822 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 T intron GWASdb_trait 6 162609719 rs9295184 G C rs9295184 3.26E-07 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 G intron GWASdb_trait 6 162643427 rs957374 C T rs957374 2.20E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 6 162660989 rs2096982 A C rs2096982 1.30E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 6 162673561 rs9365393 A G rs9365393 2.50E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 6 162702534 rs9365397 T C rs9365397 3.42E-05 Paclitaxel-induced neuropathy HPOID:0000763 DOID:2491 T intron GWASdb_trait 6 162715091 rs7746112 T C rs7746112 0.00004646 Sarcoidosis HPOID:0012220 DOID:11335 C intron GWASdb_trait 6 162729381 rs4709595 G T rs4709595 4.01E-04 Nicotine smoking HPOID:0000707 DOID:0050742 G intron GWASdb_trait 6 162736476 rs7760647 A G rs7760647 8.30E-05 Non-alcoholic fatty liver disease histology (other) HPOID:0001397|HPOID:0006561 DOID:9452 G intron GWASdb_trait 6 162752050 rs2000753 A G rs2000753 0.0000279 Skin naphthyl-keratin adduct (NKA) levels in workers exposed to naphthalene NA NA C intron GWASdb_trait 6 162778346 rs2179047 G T rs2179047 0.000588635 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 C intron GWASdb_trait 6 162790478 rs6455813 C T rs6455813 7.97E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 6 162828192 rs4709606 C T rs4709606 7.97E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_trait 6 162841979 rs10806758 C T rs10806758 3.88E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_trait 6 162869197 rs4708959 G A rs4708959 3.59E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G intron GWASdb_trait 6 162871195 rs10945835 C T rs10945835 2.14E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_trait 6 162887290 rs7755727 G A rs7755727 4.95E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 6 162889975 rs7454474 C A rs7454474 9.22E-04 Acute lung injury HPOID:0002088 DOID:850 A intron GWASdb_trait 6 162904165 rs4493732 T C rs4493732 1.81E-05 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 C intron GWASdb_trait 6 162904165 rs4493732 T C rs4493732 1.81E-05 Polyunsaturated fatty acid levels, in plasma HPOID:0011022|HPOID:0000716|HPOID:0001626|HPOID:0000819|HPOID:0000726 DOID:9351|DOID:1287|DOID:1307|DOID:1596 C intron GWASdb_trait 6 162946697 rs2846508 T C rs2846508 8.48E-05 Hypertension HPOID:0000822 DOID:10763 A intron GWASdb_trait 6 162951587 rs2846494 G C rs2846494 1.18E-09 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 G intron GWASdb_trait 6 162957575 rs2846470 C T rs2846470 2.60E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 6 162964682 rs2846488 C T rs2846488 3.07E-10 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 A intron GWASdb_trait 6 162979147 rs4636000 C T rs4636000 3.41E-08 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 T intron GWASdb_trait 6 162994639 rs2155510 T C rs2155510 6.56E-09 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 G,A intron GWASdb_trait 6 162994752 rs1012424 G A rs1012424 1.22E-08 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 T intron GWASdb_trait 6 162996263 rs9458611 C T rs9458611 9.97E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 6 162996263 rs9458611 C T rs9458611 5.98E-07 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 C intron GWASdb_trait 6 163012611 rs2803059 G T rs2803059 9.79E-13 Lipoprotein a [lp(a)] levels in plasma HPOID:0002621 DOID:1936 C intron GWASdb_trait 6 163039045 rs2846530 C T rs2846530 1.37E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 6 163053738 rs2846515 T C rs2846515 2.80E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 6 163070021 rs2803101 T C rs2803101 3.52E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000185345.18 PARK2 602544