Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 16047 single nucleotide variant NM_001031710.2(KLHL7):c.449G>A (p.Ser150Asn) 137853112 MedGen:C2751986,OMIM:612943 7 23180394 23180394 G A 16047 single nucleotide variant NM_001031710.2(KLHL7):c.449G>A (p.Ser150Asn) 137853112 MedGen:C2751986,OMIM:612943 7 23140775 23140775 G A 16048 single nucleotide variant NM_001031710.2(KLHL7):c.458C>T (p.Ala153Val) 137853113 MedGen:C2751986,OMIM:612943;MedGen:CN221809 7 23180403 23180403 C T 16048 single nucleotide variant NM_001031710.2(KLHL7):c.458C>T (p.Ala153Val) 137853113 MedGen:C2751986,OMIM:612943;MedGen:CN221809 7 23140784 23140784 C T 16049 single nucleotide variant NM_001031710.2(KLHL7):c.457G>A (p.Ala153Thr) 137853114 MedGen:C2751986,OMIM:612943 7 23180402 23180402 G A 16049 single nucleotide variant NM_001031710.2(KLHL7):c.457G>A (p.Ala153Thr) 137853114 MedGen:C2751986,OMIM:612943 7 23140783 23140783 G A 177794 single nucleotide variant NM_001031710.2(KLHL7):c.1440A>G (p.Lys480=) 118185564 MedGen:CN239354;MedGen:CN169374 7 23212627 23212627 A G 177794 single nucleotide variant NM_001031710.2(KLHL7):c.1440A>G (p.Lys480=) 118185564 MedGen:CN239354;MedGen:CN169374 7 23173008 23173008 A G 195920 deletion NM_001031710.2(KLHL7):c.975delA (p.Lys325Asnfs) 794727909 MedGen:CN169374 7 23165736 23165736 A - 195920 deletion NM_001031710.2(KLHL7):c.975delA (p.Lys325Asnfs) 794727909 MedGen:CN169374 7 23205355 23205355 A - 227930 deletion NM_001031710.2(KLHL7):c.1022delT (p.Leu341Trpfs) 879255557 MedGen:CN237811,OMIM:617055 7 23205402 23205402 T - 227930 deletion NM_001031710.2(KLHL7):c.1022delT (p.Leu341Trpfs) 879255557 MedGen:CN237811,OMIM:617055 7 23165783 23165783 T - 227931 single nucleotide variant NM_001031710.2(KLHL7):c.1115G>A (p.Arg372Gln) 879255558 MedGen:CN237811,OMIM:617055 7 23205495 23205495 G A 227931 single nucleotide variant NM_001031710.2(KLHL7):c.1115G>A (p.Arg372Gln) 879255558 MedGen:CN237811,OMIM:617055 7 23165876 23165876 G A 227933 single nucleotide variant NM_001031710.2(KLHL7):c.1261T>A (p.Cys421Ser) 879255556 MedGen:CN237811,OMIM:617055 7 23207538 23207538 T A 227933 single nucleotide variant NM_001031710.2(KLHL7):c.1261T>A (p.Cys421Ser) 879255556 MedGen:CN237811,OMIM:617055 7 23167919 23167919 T A 247568 single nucleotide variant KLHL7, ARG420CYS (rs780705654) -1 MedGen:CN237811,OMIM:617055 na -1 -1 na na 264323 single nucleotide variant NM_001031710.2(KLHL7):c.976C>T (p.Arg326Ter) 77078070 MedGen:CN169374 7 23205356 23205356 C T 264323 single nucleotide variant NM_001031710.2(KLHL7):c.976C>T (p.Arg326Ter) 77078070 MedGen:CN169374 7 23165737 23165737 C T 271006 single nucleotide variant NM_001031710.2(KLHL7):c.767A>G (p.Asn256Ser) 886043474 MedGen:CN169374 7 23183618 23183618 A G 271006 single nucleotide variant NM_001031710.2(KLHL7):c.767A>G (p.Asn256Ser) 886043474 MedGen:CN169374 7 23143999 23143999 A G 271812 single nucleotide variant NM_001031710.2(KLHL7):c.1533C>T (p.Val511=) 886043663 MedGen:CN169374 7 23213689 23213689 C T 271812 single nucleotide variant NM_001031710.2(KLHL7):c.1533C>T (p.Val511=) 886043663 MedGen:CN169374 7 23174070 23174070 C T 302557 single nucleotide variant NM_001031710.2(KLHL7):c.-215T>A 886062216 MedGen:CN239354 7 23105812 23105812 T A 302557 single nucleotide variant NM_001031710.2(KLHL7):c.-215T>A 886062216 MedGen:CN239354 7 23145431 23145431 T A 302558 single nucleotide variant NM_001031710.2(KLHL7):c.*35A>G 2286273 MedGen:CN239354 7 23174333 23174333 A G 302558 single nucleotide variant NM_001031710.2(KLHL7):c.*35A>G 2286273 MedGen:CN239354 7 23213952 23213952 A G 302567 single nucleotide variant NM_001031710.2(KLHL7):c.*98G>A 183472096 MedGen:CN239354 7 23174396 23174396 G A 302567 single nucleotide variant NM_001031710.2(KLHL7):c.*98G>A 183472096 MedGen:CN239354 7 23214015 23214015 G A 302568 single nucleotide variant NM_001031710.2(KLHL7):c.*325G>A 567516489 MedGen:CN239354 7 23174623 23174623 G A 302568 single nucleotide variant NM_001031710.2(KLHL7):c.*325G>A 567516489 MedGen:CN239354 7 23214242 23214242 G A 302572 single nucleotide variant NM_001031710.2(KLHL7):c.*376G>A 556366574 MedGen:CN239354 7 23174674 23174674 G A 302572 single nucleotide variant NM_001031710.2(KLHL7):c.*376G>A 556366574 MedGen:CN239354 7 23214293 23214293 G A 302573 single nucleotide variant NM_001031710.2(KLHL7):c.*795G>A 534737488 MedGen:CN239354 7 23175093 23175093 G A 302573 single nucleotide variant NM_001031710.2(KLHL7):c.*795G>A 534737488 MedGen:CN239354 7 23214712 23214712 G A 302574 single nucleotide variant NM_001031710.2(KLHL7):c.*865C>T 193202664 MedGen:CN239354 7 23175163 23175163 C T 302574 single nucleotide variant NM_001031710.2(KLHL7):c.*865C>T 193202664 MedGen:CN239354 7 23214782 23214782 C T 302576 single nucleotide variant NM_001031710.2(KLHL7):c.*913T>C 886062220 MedGen:CN239354 7 23175211 23175211 T C 302576 single nucleotide variant NM_001031710.2(KLHL7):c.*913T>C 886062220 MedGen:CN239354 7 23214830 23214830 T C 305932 single nucleotide variant NM_001031710.2(KLHL7):c.-271C>T 886062215 MedGen:CN239354 7 23145375 23145375 C T 305932 single nucleotide variant NM_001031710.2(KLHL7):c.-271C>T 886062215 MedGen:CN239354 7 23105756 23105756 C T 305933 single nucleotide variant NM_001031710.2(KLHL7):c.-206C>T 184270958 MedGen:CN239354 7 23105821 23105821 C T 305933 single nucleotide variant NM_001031710.2(KLHL7):c.-206C>T 184270958 MedGen:CN239354 7 23145440 23145440 C T 305937 single nucleotide variant NM_001031710.2(KLHL7):c.-145C>T 545540476 MedGen:CN239354 7 23105882 23105882 C T 305937 single nucleotide variant NM_001031710.2(KLHL7):c.-145C>T 545540476 MedGen:CN239354 7 23145501 23145501 C T 305938 single nucleotide variant NM_001031710.2(KLHL7):c.1378A>G (p.Thr460Ala) 761755398 MedGen:CN239354 7 23168036 23168036 A G 305938 single nucleotide variant NM_001031710.2(KLHL7):c.1378A>G (p.Thr460Ala) 761755398 MedGen:CN239354 7 23207655 23207655 A G 305946 single nucleotide variant NM_001031710.2(KLHL7):c.*377G>A 142087633 MedGen:CN239354 7 23174675 23174675 G A 305946 single nucleotide variant NM_001031710.2(KLHL7):c.*377G>A 142087633 MedGen:CN239354 7 23214294 23214294 G A 305947 single nucleotide variant NM_001031710.2(KLHL7):c.*779A>G 706013 MedGen:CN239354 7 23175077 23175077 A G 305947 single nucleotide variant NM_001031710.2(KLHL7):c.*779A>G 706013 MedGen:CN239354 7 23214696 23214696 A G 305950 single nucleotide variant NM_001031710.2(KLHL7):c.*1123A>C 752275483 MedGen:CN239354 7 23175421 23175421 A C 305950 single nucleotide variant NM_001031710.2(KLHL7):c.*1123A>C 752275483 MedGen:CN239354 7 23215040 23215040 A C 310653 single nucleotide variant NM_001031710.2(KLHL7):c.-231G>C 556626844 MedGen:CN239354 7 23105796 23105796 G C 310653 single nucleotide variant NM_001031710.2(KLHL7):c.-231G>C 556626844 MedGen:CN239354 7 23145415 23145415 G C 310655 single nucleotide variant NM_001031710.2(KLHL7):c.1578T>C (p.Val526=) 113256550 MedGen:CN239354 7 23174115 23174115 T C 310655 single nucleotide variant NM_001031710.2(KLHL7):c.1578T>C (p.Val526=) 113256550 MedGen:CN239354 7 23213734 23213734 T C 310658 single nucleotide variant NM_001031710.2(KLHL7):c.*232A>G 886062219 MedGen:CN239354 7 23174530 23174530 A G 310658 single nucleotide variant NM_001031710.2(KLHL7):c.*232A>G 886062219 MedGen:CN239354 7 23214149 23214149 A G 310660 single nucleotide variant NM_001031710.2(KLHL7):c.*762G>A 531449074 MedGen:CN239354 7 23175060 23175060 G A 310660 single nucleotide variant NM_001031710.2(KLHL7):c.*762G>A 531449074 MedGen:CN239354 7 23214679 23214679 G A 310661 single nucleotide variant NM_001031710.2(KLHL7):c.*898A>T 557309443 MedGen:CN239354 7 23175196 23175196 A T 310661 single nucleotide variant NM_001031710.2(KLHL7):c.*898A>T 557309443 MedGen:CN239354 7 23214815 23214815 A T 310663 single nucleotide variant NM_001031710.2(KLHL7):c.*1052T>C 572464135 MedGen:CN239354 7 23175350 23175350 T C 310663 single nucleotide variant NM_001031710.2(KLHL7):c.*1052T>C 572464135 MedGen:CN239354 7 23214969 23214969 T C 310935 single nucleotide variant NM_001031710.2(KLHL7):c.-235G>T 75076913 MedGen:CN239354 7 23145411 23145411 G T 310935 single nucleotide variant NM_001031710.2(KLHL7):c.-235G>T 75076913 MedGen:CN239354 7 23105792 23105792 G T 310946 single nucleotide variant NM_001031710.2(KLHL7):c.-38G>A 200506606 MedGen:CN239354 7 23105989 23105989 G A 310946 single nucleotide variant NM_001031710.2(KLHL7):c.-38G>A 200506606 MedGen:CN239354 7 23145608 23145608 G A 310947 single nucleotide variant NM_001031710.2(KLHL7):c.-16A>G 563311203 MedGen:CN239354 7 23106011 23106011 A G 310947 single nucleotide variant NM_001031710.2(KLHL7):c.-16A>G 563311203 MedGen:CN239354 7 23145630 23145630 A G 310949 single nucleotide variant NM_001031710.2(KLHL7):c.318-7T>C 886062217 MedGen:CN239354 7 23125041 23125041 T C 310949 single nucleotide variant NM_001031710.2(KLHL7):c.318-7T>C 886062217 MedGen:CN239354 7 23164660 23164660 T C 310950 single nucleotide variant NM_001031710.2(KLHL7):c.352C>T (p.Leu118=) 15775 MedGen:CN239354 7 23125082 23125082 C T 310950 single nucleotide variant NM_001031710.2(KLHL7):c.352C>T (p.Leu118=) 15775 MedGen:CN239354 7 23164701 23164701 C T 310951 deletion NM_001031710.2(KLHL7):c.443-10_443-9delCT 886062218 MedGen:CN239354 7 23140759 23140760 CT - 310951 deletion NM_001031710.2(KLHL7):c.443-10_443-9delCT 886062218 MedGen:CN239354 7 23180378 23180379 CT - 310955 single nucleotide variant NM_001031710.2(KLHL7):c.*7A>G 112802878 MedGen:CN239354 7 23174305 23174305 A G 310955 single nucleotide variant NM_001031710.2(KLHL7):c.*7A>G 112802878 MedGen:CN239354 7 23213924 23213924 A G 310957 single nucleotide variant NM_001031710.2(KLHL7):c.*201G>A 781364081 MedGen:CN239354 7 23174499 23174499 G A 310957 single nucleotide variant NM_001031710.2(KLHL7):c.*201G>A 781364081 MedGen:CN239354 7 23214118 23214118 G A 310960 single nucleotide variant NM_001031710.2(KLHL7):c.*971G>T 78612254 MedGen:CN239354 7 23175269 23175269 G T 310960 single nucleotide variant NM_001031710.2(KLHL7):c.*971G>T 78612254 MedGen:CN239354 7 23214888 23214888 G 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 7 23146189 rs2072369 A G rs2072369 1.51E-05 Parkinson's disease HPOID:0001300 DOID:14330 A UTR-5 GWASdb_trait 7 23147840 rs987257 G A rs987257 2.69E-05 Parkinson's disease HPOID:0001300 DOID:14330 G intron GWASdb_trait 7 23148473 rs1034963 T C rs1034963 2.82E-05 Parkinson's disease HPOID:0001300 DOID:14330 T intron GWASdb_trait 7 23149950 rs10239760 C T rs10239760 5.73E-05 Parkinson's disease HPOID:0001300 DOID:14330 C intron GWASdb_trait 7 23152677 rs11984129 A G rs11984129 2.79E-05 Parkinson's disease HPOID:0001300 DOID:14330 G intron GWASdb_trait 7 23153875 rs764533 C T rs764533 3.20E-05 Parkinson's disease HPOID:0001300 DOID:14330 T intron GWASdb_trait 7 23153935 rs764534 C T rs764534 5.49E-05 Parkinson's disease HPOID:0001300 DOID:14330 C intron GWASdb_trait 7 23156079 rs1558313 G A rs1558313 3.37E-05 Parkinson's disease HPOID:0001300 DOID:14330 A intron GWASdb_trait 7 23164701 rs15775 C T rs15775 2.74E-05 Parkinson's disease HPOID:0001300 DOID:14330 A cds-synon GWASdb_trait 7 23194605 rs955187 A G rs955187 7.10E-05 Parkinson's disease HPOID:0001300 DOID:14330 T intron GWASdb_trait 7 23194605 rs955187 A G rs955187 1.82E-04 Prion diseases HPOID:0004429 DOID:649 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000122550.17 KLHL7 611119