Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 185937 single nucleotide variant NM_003922.3(HERC1):c.9748C>T (p.Arg3250Ter) 753780877 MedGen:CN237397,OMIM:617011;MedGen:CN228136 15 63948409 63948409 G A 185937 single nucleotide variant NM_003922.3(HERC1):c.9748C>T (p.Arg3250Ter) 753780877 MedGen:CN237397,OMIM:617011;MedGen:CN228136 15 63656210 63656210 G A 205420 single nucleotide variant NM_003922.3(HERC1):c.4906-2A>C 797045141 MedGen:CN237397,OMIM:617011;MedGen:CN228136 15 63696341 63696341 T G 205420 single nucleotide variant NM_003922.3(HERC1):c.4906-2A>C 797045141 MedGen:CN237397,OMIM:617011;MedGen:CN228136 15 63988540 63988540 T G 244091 single nucleotide variant NM_003922.3(HERC1):c.2625G>A (p.Trp875Ter) 879253786 MedGen:CN237397,OMIM:617011 15 64026944 64026944 C T 244091 single nucleotide variant NM_003922.3(HERC1):c.2625G>A (p.Trp875Ter) 879253786 MedGen:CN237397,OMIM:617011 15 63734745 63734745 C T 244092 single nucleotide variant NM_003922.3(HERC1):c.13559G>A (p.Gly4520Glu) 769677823 MedGen:CN237397,OMIM:617011 15 63623777 63623777 C T 244092 single nucleotide variant NM_003922.3(HERC1):c.13559G>A (p.Gly4520Glu) 769677823 MedGen:CN237397,OMIM:617011 15 63915976 63915976 C T 360184 single nucleotide variant NM_003922.3(HERC1):c.13142C>G (p.Thr4381Arg) 1057518376 MedGen:CN169374 15 63626118 63626118 G C 360184 single nucleotide variant NM_003922.3(HERC1):c.13142C>G (p.Thr4381Arg) 1057518376 MedGen:CN169374 15 63918317 63918317 G C 360287 single nucleotide variant NM_003922.3(HERC1):c.7615G>A (p.Ala2539Thr) 200745033 MedGen:CN169374 15 63674573 63674573 C T 360287 single nucleotide variant NM_003922.3(HERC1):c.7615G>A (p.Ala2539Thr) 200745033 MedGen:CN169374 15 63966772 63966772 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 15 63901646 rs4984252 G A rs4984252 9.29E-08 Metabolite levels HPOID:0001939 DOID:655 A intron GWASdb_trait 15 63905543 rs4283174 A G rs4283174 9.29E-08 Metabolite levels HPOID:0001939 DOID:655 G intron GWASdb_trait 15 63915379 rs4523879 G A rs4523879 8.63E-08 Metabolite levels HPOID:0001939 DOID:655 A intron GWASdb_trait 15 63915786 rs11630290 C T rs11630290 1.00E-06 Iris characteristics HPOID:0000525 DOID:240 C intron GWASdb_trait 15 63981327 rs17186555 C T rs17186555 3.72E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 15 63988765 rs17186681 A T rs17186681 5.27E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 15 64047120 rs10519220 T C rs10519220 1.44E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 15 64047120 rs10519220 T C rs10519220 7.10E-06 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait 15 64068284 rs13379670 T C rs13379670 8.29E-05 Lung function (forced expiratory flow between 25% and 75% of forced vital capacity) HPOID:0002088 DOID:850 T intron GWASdb_trait 15 64098557 rs11631544 T C rs11631544 2.10E-05 Urinary metabolites HPOID:0000079 DOID:557 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000103657.13 HERC1 605109