SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2989924 AQP7 Health Risk risk factor OBESITY (BMIQ17), SUSCEPTIBILITY TO
RS3007037 MGAT2 Health Risk Conflicting classifications of pathogenicity MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation
RS3025968 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS3026397 PAX6 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Foveal hypoplasia 1
RS3026906 ECE1 Health Risk Pathogenic Hirschsprung disease, cardiac defects
RS3032358 AR Health Risk Pathogenic Kennedy disease, Kennedy disease
RS3034796 CFTR Health Risk Pathogenic Hereditary pancreatitis, Cystic fibrosis
RS3038807 RTN2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS3071247 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS3072277 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS3075570 DIAPH1 Health Risk Conflicting classifications of pathogenicity Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS3087376 FANCI;POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS3087378 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS3087456 CIITA Health Risk risk factor Rheumatoid arthritis, Rheumatoid arthritis
RS3087467 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, NTHL1-related disorder
RS3087469 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS3088362 CCDC122 Health Risk Uncertain risk allele Leprosy, susceptibility to
RS3092826 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS3092828 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS3092831 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS3092834 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS3092841 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS3092842 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS3092859 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS3092891 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS3092900 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS3092903 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS3092907 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS3093221 CYP4F2 Health Risk Conflicting classifications of pathogenicity Lung cancer, Lung cancer
RS3093248 F7 Health Risk Conflicting classifications of pathogenicity Factor VII deficiency, Myocardial infarction
RS3093266 F7 Health Risk Conflicting classifications of pathogenicity Factor VII deficiency, Factor VII deficiency
RS3093370 IL21R Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS3093765 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Multiple myeloma
RS311103 - Health Risk Pathogenic XG BLOOD GROUP SYSTEM, Xg(a-) PHENOTYPE
RS3120649 FLG Health Risk Pathogenic —
RS312262685 ZMPSTE24 Health Risk Pathogenic —
RS312262686 ZMPSTE24 Health Risk Pathogenic Lethal tight skin contracture syndrome, Mandibuloacral dysplasia with type B lipodystrophy
RS312262690 ANTXR2 Health Risk Pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS312262693 ANTXR2 Health Risk Pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS312262694 DGKE Health Risk Likely pathogenic Hemolytic uremic syndrome, atypical
RS312262696 DGKE Health Risk Pathogenic Atypical hemolytic-uremic syndrome, Immunoglobulin-mediated membranoproliferative glomerulonephritis
RS312262697 DGKE Health Risk Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS312262698 DGKE Health Risk Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS312262699 DGKE Health Risk Pathogenic Hemolytic uremic syndrome, atypical
RS312262702 TRIM37 Health Risk Pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS312262706 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS312262709 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262711 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262714 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS312262715 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS312262716 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS312262717 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262719 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS312262720 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262721 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262722 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS312262723 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262725 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262726 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS312262727 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262728 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262730 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262732 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262734 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262735 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262737 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS312262738 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262739 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262740 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS312262741 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262742 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262743 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262744 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262745 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS312262747 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS312262748 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262749 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262750 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262752 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262753 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS312262755 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Spastic paraplegia
RS312262757 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262759 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS312262762 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262763 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS312262764 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS312262765 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262766 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262767 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, SPG11-related disorder
RS312262769 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262770 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS312262774 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262775 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS312262776 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, SPG11-related spastic paraplegia
RS312262777 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262778 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262779 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS312262780 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS312262781 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS312262782 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
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