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
RS137852855 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS137852856 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS137852857 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS137852858 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS137852859 NHLRC1 Health Risk Pathogenic Myoclonic epilepsy of Lafora 2, Myoclonic epilepsy of Lafora 2
RS137852860 SUGCT Health Risk Conflicting classifications of pathogenicity Glutaryl-CoA oxidase deficiency, SUGCT-related disorder
RS137852861 SUGCT Health Risk Pathogenic Glutaryl-CoA oxidase deficiency, Glutaryl-CoA oxidase deficiency
RS137852862 SUGCT Health Risk Conflicting classifications of pathogenicity Glutaryl-CoA oxidase deficiency, Glutaryl-CoA oxidase deficiency
RS137852863 NDUFAF2 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 10
RS137852865 HPD Health Risk Likely pathogenic Tyrosinemia type III, Hawkinsinuria
RS137852866 HPD Health Risk Pathogenic Tyrosinemia type III, Tyrosinemia type III
RS137852867 HPD Health Risk Pathogenic Tyrosinemia type III, Tyrosinemia type III
RS137852868 HPD Health Risk Conflicting classifications of pathogenicity Tyrosinemia type III, Hawkinsinuria
RS137852869 NDUFA13 Health Risk Pathogenic Hurthle cell carcinoma of thyroid, Hurthle cell carcinoma of thyroid
RS137852870 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease
RS137852871 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS137852872 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS137852873 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS137852874 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS137852875 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS137852876 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS137852883 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS137852884 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS137852885 GNPTG Health Risk Pathogenic/Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS137852886 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, nonprogressive hepatic
RS137852887 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic
RS137852888 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic
RS137852889 GBE1 Health Risk Likely pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
RS137852890 GBE1 Health Risk Pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
RS137852891 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
RS137852892 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
RS137852893 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
RS137852894 GBE1 Health Risk Pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
RS137852895 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Pseudo-Hurler polydystrophy
RS137852896 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS137852897 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS137852898 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS137852899 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS137852900 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS137852901 ANTXR2 Health Risk Pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS137852902 ANTXR2 Health Risk Pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS137852903 ANTXR2 Health Risk Pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS137852904 ANTXR2 Health Risk Pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS137852905 ANTXR2 Health Risk Pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS137852906 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS137852907 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS137852908 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS137852910 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS137852911 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS137852912 PCSK9 Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, autosomal dominant
RS137852913 MCFD2 Health Risk Pathogenic Factor 5 and Factor VIII, combined deficiency of
RS137852914 MCFD2 Health Risk Pathogenic Factor 5 and Factor VIII, combined deficiency of
RS137852915 EPM2A Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Myoclonic epilepsy of Lafora 1
RS137852916 EPM2A Health Risk Pathogenic/Likely pathogenic Lafora disease, Progressive myoclonic epilepsy
RS137852917 EPM2A Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Myoclonic epilepsy of Lafora 1
RS137852918 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Nephronophthisis
RS137852919 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Nephronophthisis
RS137852920 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Cerebello-oculo-renal syndrome (nephronophthisis
RS137852922 NPHP4 Health Risk Pathogenic Senior-Loken syndrome 4, Nephronophthisis
RS137852923 NPHP4 Health Risk Pathogenic Senior-Loken syndrome 4, Nephronophthisis
RS137852924 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Short-rib thoracic dysplasia 6 with or without polydactyly
RS137852925 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS137852926 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS137852927 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS137852929 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS137852930 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS137852931 ST14 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11
RS137852932 ST14 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11
RS137852934 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4
RS137852937 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS137852944 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Colorectal cancer
RS137852946 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS137852947 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS137852948 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS137852949 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS137852950 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS137852951 TLL1 Health Risk Pathogenic Atrial septal defect 6, Atrial septal defect 6
RS137852953 TLL1 Health Risk Pathogenic Atrial septal defect 6, Atrial septal defect 6
RS137852955 TBX20 Health Risk Pathogenic Atrial septal defect 4, Atrial septal defect 4
RS137852956 TWNK Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS137852957 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS137852958 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS137852959 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia
RS137852960 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS137852961 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS137852962 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS137852963 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS137852964 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS137852965 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS137852967 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia
RS137852968 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Dystonic disorder
RS137852969 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS137852970 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Inborn genetic diseases
RS137852971 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Charcot-Marie-Tooth disease type 2
RS137852972 BSCL2;HNRNPUL2-BSCL2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS137852973 BSCL2 Health Risk Pathogenic Hereditary spastic paraplegia 17, Charcot-Marie-Tooth disease type 2
RS137852974 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy
RS137852975 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Charcot-Marie-Tooth disease type 2
RS137852976 DICER1 Health Risk Likely pathogenic Pleuropulmonary blastoma, DICER1-related tumor predisposition
RS137852977 DICER1 Health Risk Pathogenic Pleuropulmonary blastoma, Hereditary cancer-predisposing syndrome
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