Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 18496 deletion SPG20, 1-BP DEL, 1110A -1 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 na -1 -1 na na 18497 deletion SPG20, 2-BP DEL, 364AT -1 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 na -1 -1 na na 135815 single nucleotide variant NM_015087.4(SPG20):c.1629A>G (p.Ala543=) 2274293 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559;MedGen:CN169374 13 36886469 36886469 T C 135815 single nucleotide variant NM_015087.4(SPG20):c.1629A>G (p.Ala543=) 2274293 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559;MedGen:CN169374 13 36312332 36312332 T C 181436 duplication NM_001142294.1(SPG20):c.1450dupA (p.Thr484Asnfs) 730882198 Human Phenotype Ontology:HP:0001251,MedGen:C0007758;Human Phenotype Ontology:HP:0001260,MedGen:C1839743;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0000486,MedGen:C0038379 13 36314260 36314260 T TT 181436 duplication NM_001142294.1(SPG20):c.1450dupA (p.Thr484Asnfs) 730882198 Human Phenotype Ontology:HP:0001251,MedGen:C0007758;Human Phenotype Ontology:HP:0001260,MedGen:C1839743;Human Phenotype Ontology:HP:0001508,MedGen:C0231246;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0000252,MedGen:C0424688;Human Phenotype Ontology:HP:0000486,MedGen:C0038379 13 36888397 36888397 T TT 186187 single nucleotide variant NM_015087.4(SPG20):c.720T>A (p.Ser240Arg) 780452995 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36909248 36909248 A T 186187 single nucleotide variant NM_015087.4(SPG20):c.720T>A (p.Ser240Arg) 780452995 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36335111 36335111 A T 189086 single nucleotide variant -1 MedGen:CN221809 13 36888396 36888396 - T 213100 single nucleotide variant NM_015087.4(SPG20):c.1172A>G (p.Asp391Gly) 148833652 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36900828 36900828 T C 213100 single nucleotide variant NM_015087.4(SPG20):c.1172A>G (p.Asp391Gly) 148833652 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36326691 36326691 T C 213101 single nucleotide variant NM_015087.4(SPG20):c.361G>T (p.Asp121Tyr) 146398746 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36909607 36909607 C A 213101 single nucleotide variant NM_015087.4(SPG20):c.361G>T (p.Asp121Tyr) 146398746 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36335470 36335470 C A 213102 single nucleotide variant NM_015087.4(SPG20):c.75A>G (p.Leu25=) 148399669 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36335756 36335756 T C 213102 single nucleotide variant NM_015087.4(SPG20):c.75A>G (p.Leu25=) 148399669 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36909893 36909893 T C 241738 single nucleotide variant NM_015087.4(SPG20):c.1155T>G (p.Arg385=) 140222511 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36329371 36329371 A C 241738 single nucleotide variant NM_015087.4(SPG20):c.1155T>G (p.Arg385=) 140222511 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36903508 36903508 A C 241739 single nucleotide variant NM_015087.4(SPG20):c.1127A>G (p.Asn376Ser) 368305530 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36903536 36903536 T C 241739 single nucleotide variant NM_015087.4(SPG20):c.1127A>G (p.Asn376Ser) 368305530 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36329399 36329399 T C 241740 single nucleotide variant NM_015087.4(SPG20):c.1053T>C (p.Pro351=) 878854993 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36329473 36329473 A G 241740 single nucleotide variant NM_015087.4(SPG20):c.1053T>C (p.Pro351=) 878854993 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36903610 36903610 A G 247089 single nucleotide variant NM_015087.4(SPG20):c.928G>A (p.Val310Ile) 759847798 MedGen:CN169374 13 36905616 36905616 C T 247089 single nucleotide variant NM_015087.4(SPG20):c.928G>A (p.Val310Ile) 759847798 MedGen:CN169374 13 36331479 36331479 C T 271450 single nucleotide variant NM_001142294.1(SPG20):c.1697A>G (p.Asn566Ser) 370102453 MedGen:CN169374 13 36886318 36886318 T C 271450 single nucleotide variant NM_001142294.1(SPG20):c.1697A>G (p.Asn566Ser) 370102453 MedGen:CN169374 13 36312181 36312181 T C 319416 deletion NM_015087.4(SPG20):c.*2127_*2130delGATA 150662490 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302235 36302238 TATC - 319416 deletion NM_015087.4(SPG20):c.*2127_*2130delGATA 150662490 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876372 36876375 TATC - 319420 single nucleotide variant NM_015087.4(SPG20):c.*2123T>C 78129833 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302242 36302242 A G 319420 single nucleotide variant NM_015087.4(SPG20):c.*2123T>C 78129833 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876379 36876379 A G 319422 single nucleotide variant NM_015087.4(SPG20):c.*1892G>A 373152101 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302473 36302473 C T 319422 single nucleotide variant NM_015087.4(SPG20):c.*1892G>A 373152101 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876610 36876610 C T 319423 single nucleotide variant NM_015087.4(SPG20):c.*1848A>C 553638012 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302517 36302517 T G 319423 single nucleotide variant NM_015087.4(SPG20):c.*1848A>C 553638012 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876654 36876654 T G 319428 single nucleotide variant NM_015087.4(SPG20):c.*1550A>G 886050133 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302815 36302815 T C 319428 single nucleotide variant NM_015087.4(SPG20):c.*1550A>G 886050133 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876952 36876952 T C 319429 single nucleotide variant NM_015087.4(SPG20):c.*924C>A 7333861 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303441 36303441 G T 319429 single nucleotide variant NM_015087.4(SPG20):c.*924C>A 7333861 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877578 36877578 G T 319432 single nucleotide variant NM_015087.4(SPG20):c.*734T>C 886050135 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877768 36877768 A G 319432 single nucleotide variant NM_015087.4(SPG20):c.*734T>C 886050135 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303631 36303631 A G 319440 single nucleotide variant NM_015087.4(SPG20):c.*451G>A 1054149 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36878051 36878051 C T 319440 single nucleotide variant NM_015087.4(SPG20):c.*451G>A 1054149 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303914 36303914 C T 319448 single nucleotide variant NM_015087.4(SPG20):c.686A>G (p.Gln229Arg) 570884857 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36909282 36909282 T C 319448 single nucleotide variant NM_015087.4(SPG20):c.686A>G (p.Gln229Arg) 570884857 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36335145 36335145 T C 319449 single nucleotide variant NM_015087.4(SPG20):c.360A>G (p.Lys120=) 149730980 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36909608 36909608 T C 319449 single nucleotide variant NM_015087.4(SPG20):c.360A>G (p.Lys120=) 149730980 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36335471 36335471 T C 319453 single nucleotide variant NM_015087.4(SPG20):c.-253G>A 2281864 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36346475 36346475 C T 319453 single nucleotide variant NM_015087.4(SPG20):c.-253G>A 2281864 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36920612 36920612 C T 327971 single nucleotide variant NM_015087.4(SPG20):c.*2454A>T 74868982 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36301911 36301911 T A 327971 single nucleotide variant NM_015087.4(SPG20):c.*2454A>T 74868982 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876048 36876048 T A 327972 single nucleotide variant NM_015087.4(SPG20):c.*2343T>C 34434389 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302022 36302022 A G 327972 single nucleotide variant NM_015087.4(SPG20):c.*2343T>C 34434389 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876159 36876159 A G 327994 single nucleotide variant NM_015087.4(SPG20):c.1745A>T (p.Asn582Ile) 139085653 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36878758 36878758 T A 327994 single nucleotide variant NM_015087.4(SPG20):c.1745A>T (p.Asn582Ile) 139085653 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36304621 36304621 T A 328001 single nucleotide variant NM_015087.4(SPG20):c.1470C>T (p.Val490=) 750472401 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36888377 36888377 G A 328001 single nucleotide variant NM_015087.4(SPG20):c.1470C>T (p.Val490=) 750472401 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36314240 36314240 G A 328002 single nucleotide variant NM_015087.4(SPG20):c.852G>A (p.Pro284=) 571222120 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36905692 36905692 C T 328002 single nucleotide variant NM_015087.4(SPG20):c.852G>A (p.Pro284=) 571222120 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36331555 36331555 C T 328010 deletion NM_015087.4(SPG20):c.-247_-246delTG 886050138 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36346468 36346469 CA - 328010 deletion NM_015087.4(SPG20):c.-247_-246delTG 886050138 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36920605 36920606 CA - 328011 single nucleotide variant NM_015087.4(SPG20):c.-261T>G 886050139 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36346483 36346483 A C 328011 single nucleotide variant NM_015087.4(SPG20):c.-261T>G 886050139 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36920620 36920620 A C 334295 single nucleotide variant NM_015087.4(SPG20):c.*2256G>A 886050131 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302109 36302109 C T 334295 single nucleotide variant NM_015087.4(SPG20):c.*2256G>A 886050131 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876246 36876246 C T 334302 deletion NM_015087.4(SPG20):c.*2150_*2154delAGGTA 747194340 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302211 36302215 TACCT - 334302 deletion NM_015087.4(SPG20):c.*2150_*2154delAGGTA 747194340 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876348 36876352 TACCT - 334303 single nucleotide variant NM_015087.4(SPG20):c.*1799G>A 9547190 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302566 36302566 C T 334303 single nucleotide variant NM_015087.4(SPG20):c.*1799G>A 9547190 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876703 36876703 C T 334304 single nucleotide variant NM_015087.4(SPG20):c.*1456G>A 562306593 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302909 36302909 C T 334304 single nucleotide variant NM_015087.4(SPG20):c.*1456G>A 562306593 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877046 36877046 C T 334305 single nucleotide variant NM_015087.4(SPG20):c.*1014A>G 886050134 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303351 36303351 T C 334305 single nucleotide variant NM_015087.4(SPG20):c.*1014A>G 886050134 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877488 36877488 T C 334312 single nucleotide variant NM_015087.4(SPG20):c.*846G>A 1054152 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303519 36303519 C T 334312 single nucleotide variant NM_015087.4(SPG20):c.*846G>A 1054152 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877656 36877656 C T 334313 single nucleotide variant NM_015087.4(SPG20):c.*817A>T 7317988 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303548 36303548 T A 334313 single nucleotide variant NM_015087.4(SPG20):c.*817A>T 7317988 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877685 36877685 T A 334314 single nucleotide variant NM_015087.4(SPG20):c.*716G>A 574483995 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877786 36877786 C T 334314 single nucleotide variant NM_015087.4(SPG20):c.*716G>A 574483995 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303649 36303649 C T 334325 deletion NM_015087.4(SPG20):c.*704_*708delGTATT 886050136 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877794 36877798 AATAC - 334325 deletion NM_015087.4(SPG20):c.*704_*708delGTATT 886050136 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303657 36303661 AATAC - 334326 single nucleotide variant NM_015087.4(SPG20):c.*446T>C 190515727 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36878056 36878056 A G 334326 single nucleotide variant NM_015087.4(SPG20):c.*446T>C 190515727 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303919 36303919 A G 334330 single nucleotide variant NM_015087.4(SPG20):c.1964C>T (p.Thr655Met) 140800614 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36304402 36304402 G A 334330 single nucleotide variant NM_015087.4(SPG20):c.1964C>T (p.Thr655Met) 140800614 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36878539 36878539 G A 334339 single nucleotide variant NM_015087.4(SPG20):c.627G>A (p.Pro209=) 370385005 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36909341 36909341 C T 334339 single nucleotide variant NM_015087.4(SPG20):c.627G>A (p.Pro209=) 370385005 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36335204 36335204 C T 334343 single nucleotide variant NM_015087.4(SPG20):c.-33C>T 886050137 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36920392 36920392 G A 334343 single nucleotide variant NM_015087.4(SPG20):c.-33C>T 886050137 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36346255 36346255 G A 336018 single nucleotide variant NM_015087.4(SPG20):c.*2299T>C 564428460 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302066 36302066 A G 336018 single nucleotide variant NM_015087.4(SPG20):c.*2299T>C 564428460 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876203 36876203 A G 336019 single nucleotide variant NM_015087.4(SPG20):c.*2204C>T 564614485 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302161 36302161 G A 336019 single nucleotide variant NM_015087.4(SPG20):c.*2204C>T 564614485 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876298 36876298 G A 336029 single nucleotide variant NM_015087.4(SPG20):c.*1794A>G 886050132 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36302571 36302571 T C 336029 single nucleotide variant NM_015087.4(SPG20):c.*1794A>G 886050132 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36876708 36876708 T C 336031 single nucleotide variant NM_015087.4(SPG20):c.*624A>G 2148049 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877878 36877878 T C 336031 single nucleotide variant NM_015087.4(SPG20):c.*624A>G 2148049 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303741 36303741 T C 336032 single nucleotide variant NM_015087.4(SPG20):c.*608C>T 1054144 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877894 36877894 G A 336032 single nucleotide variant NM_015087.4(SPG20):c.*608C>T 1054144 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303757 36303757 G A 336038 single nucleotide variant NM_015087.4(SPG20):c.*524A>G 1054141 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36877978 36877978 T C 336038 single nucleotide variant NM_015087.4(SPG20):c.*524A>G 1054141 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36303841 36303841 T C 336039 deletion NM_015087.4(SPG20):c.*285delG 570720520 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36878217 36878217 C - 336039 deletion NM_015087.4(SPG20):c.*285delG 570720520 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36304080 36304080 C - 336040 single nucleotide variant NM_015087.4(SPG20):c.1954G>A (p.Asp652Asn) 143274967 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36878549 36878549 C T 336040 single nucleotide variant NM_015087.4(SPG20):c.1954G>A (p.Asp652Asn) 143274967 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36304412 36304412 C T 336041 single nucleotide variant NM_015087.4(SPG20):c.1414G>T (p.Ala472Ser) 142482393 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36888433 36888433 C A 336041 single nucleotide variant NM_015087.4(SPG20):c.1414G>T (p.Ala472Ser) 142482393 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36314296 36314296 C A 336050 single nucleotide variant NM_015087.4(SPG20):c.-118C>A 528288894 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36346340 36346340 G T 336050 single nucleotide variant NM_015087.4(SPG20):c.-118C>A 528288894 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36920477 36920477 G T 336057 single nucleotide variant NM_015087.4(SPG20):c.-145G>A 9566108 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36346367 36346367 C T 336057 single nucleotide variant NM_015087.4(SPG20):c.-145G>A 9566108 MedGen:C0393559,OMIM:275900,Orphanet:ORPHA101000,SNOMED CT:C0393559 13 36920504 36920504 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 13 36875496 rs7334585 T G rs7334585 1.36E-05 Cognitive test performance HPOID:0100543 DOID:1561 G nearGene-3 GWASdb_trait 13 36937156 rs2025647 T A rs2025647 3.47E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 13 36937156 rs78022293 T TA rs2025647 3.47E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 13 36937681 rs9547461 A G rs9547461 3.24E-05 Waist Circumference HPOID:0001513 DOID:9970 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000133104.12 SPG20 607111