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
RS2501191093 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501193882 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501194385 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501196429 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501198105 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501198442 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501198539 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501201951 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501202715 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS2501240893 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS2501258173 DNAJC3 Health Risk Likely pathogenic Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
RS2501269442 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2501271113 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501271560 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501272074 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2501274238 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501278271 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2501296630 DDX6 Health Risk Likely pathogenic Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies
RS2501328740 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501333823 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2501410449 FOXO1 Health Risk Pathogenic Malignant lymphoma, large B-cell
RS2501425559 GPC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2501462993 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2501463457 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501464922 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501466847 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2501468319 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2501474958 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2501475352 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501476639 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2501484628 ALG5 Health Risk Pathogenic Polycystic kidney disease 7, Polycystic kidney disease 7
RS2501484936 ALG5 Health Risk Pathogenic Polycystic kidney disease 7, Polycystic kidney disease 7
RS2501497769 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS2501499274 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501502246 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501502939 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2501503340 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS2501504626 CEP290 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2501504852 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2501509040 ERCC5 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2501509792 ERCC5 Health Risk Likely pathogenic —
RS2501526238 EDNRB Health Risk Pathogenic/Likely pathogenic EDNRB-related disorder, Waardenburg syndrome type 4A
RS2501529754 ERCC5 Health Risk Pathogenic ERCC5-related disorder, ERCC5-related disorder
RS2501530183 EDNRB Health Risk Likely pathogenic Waardenburg syndrome type 4A, Waardenburg syndrome type 4A
RS2501534251 ERCC5 Health Risk Likely pathogenic ERCC5-related disorder, ERCC5-related disorder
RS2501534466 ERCC5 Health Risk Likely pathogenic Xeroderma pigmentosum, group G
RS2501534802 EDNRB Health Risk Pathogenic —
RS2501536677 ERCC5 Health Risk Likely pathogenic Xeroderma pigmentosum, group G
RS2501538404 COL4A1 Health Risk Likely pathogenic COL4A1-related disorder, COL4A1-related disorder
RS2501540839 COL4A1 Health Risk Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS2501541341 ZIC2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2501542597 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2501542886 ERCC5 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 3, Cerebrooculofacioskeletal syndrome 3
RS2501544530 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2501544556 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501544720 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501544777 ZIC2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Holoprosencephaly 5
RS2501545060 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501545142 ZIC2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, ZIC2-related disorder
RS2501545204 ZIC2 Health Risk Likely pathogenic ZIC2-related disorder, ZIC2-related disorder
RS2501545280 ZIC2 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501549380 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501549421 ZIC2 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501550235 ZIC2 Health Risk Likely pathogenic —
RS2501551086 ZIC2 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501551952 ZIC2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2501565019 COL4A1 Health Risk Likely pathogenic —
RS2501565026 ERCC5 Health Risk Conflicting classifications of pathogenicity —
RS2501568764 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2501569133 COL4A1 Health Risk Likely pathogenic —
RS2501574019 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501578919 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501580024 COL4A1 Health Risk Pathogenic —
RS2501580028 COL4A1 Health Risk Likely pathogenic Melanoma, Melanoma
RS2501580705 LIG4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2501580855 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501582495 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501583917 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501584917 COL4A1 Health Risk Likely pathogenic —
RS2501584950 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2501588488 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501589806 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501590728 COL4A1 Health Risk Pathogenic —
RS2501590784 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS2501591208 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501592907 COL4A1 Health Risk Pathogenic Microangiopathy and leukoencephalopathy, pontine
RS2501597013 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501597863 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501598195 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501598598 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501600650 COL4A1 Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2501600808 LIG4 Health Risk Likely pathogenic LIG4-related disorder, LIG4-related disorder
RS2501602006 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501603480 COL4A1 Health Risk Pathogenic —
RS2501604196 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501604455 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501605250 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501606132 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501607524 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS2501607972 EDNRB Health Risk Conflicting classifications of pathogenicity —
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