SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS794726841 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726842 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726843 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726844 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726845 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726846 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726847 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726848 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726849 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726850 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726851 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726852 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726853 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS794726854 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS794726855 TUBGCP4 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3
RS794726856 TUBGCP4 Health Risk Pathogenic Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3
RS794726857 MT-ATP6 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS794726858 CNNM2 Health Risk Pathogenic/Likely pathogenic Hypomagnesemia, seizures
RS794726859 SLC6A1 Health Risk Pathogenic Autosomal dominant epilepsy, Epilepsy with myoclonic atonic seizures
RS794726860 SLC6A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS794726861 RBP4 Health Risk Likely pathogenic Microphthalmia, isolated
RS794726862 RBP4 Health Risk Pathogenic Microphthalmia, isolated
RS794726863 RNF113A Health Risk Likely pathogenic Trichothiodystrophy 5, nonphotosensitive
RS794726864 PDE3A Health Risk Pathogenic Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome
RS794726865 PDE3A Health Risk Pathogenic Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome
RS794726866 PDE3A Health Risk Pathogenic Brachydactyly-arterial hypertension syndrome, Inborn genetic diseases
RS794726867 PDE3A Health Risk Pathogenic Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome
RS794726868 PDE3A Health Risk Pathogenic Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome
RS794726869 MARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 25, Combined oxidative phosphorylation defect type 25
RS794726871 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS794726872 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder
RS794726873 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS794726876 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS794726877 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS794726878 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS794726880 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS794726882 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, PEX7-related disorder
RS794726886 GLB1 Health Risk Likely pathogenic —
RS794726887 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS794726890 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS794726893 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS794726896 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS794726897 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS794726898 PCDH19 Health Risk Conflicting classifications of pathogenicity —
RS794726906 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, SPG7-related disorder
RS794726910 DMD Health Risk Conflicting classifications of pathogenicity —
RS794726912 RECQL4 Health Risk Pathogenic —
RS794726921 LMNA Health Risk Pathogenic —
RS794726924 SOX3 Health Risk Conflicting classifications of pathogenicity SOX3-related disorder, SOX3-related disorder
RS794726927 ENPP1 Health Risk Conflicting classifications of pathogenicity —
RS794726932 SLC16A2 Health Risk Pathogenic —
RS794726933 SLC16A2 Health Risk Likely pathogenic —
RS794726937 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS794726941 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, MAGEL2-related disorder
RS794726942 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS794726944 ALG1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS794726945 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS794726950 COG6 Health Risk Pathogenic —
RS794726951 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS794726954 CDHR1 Health Risk Pathogenic Cone-rod dystrophy 15, Retinitis pigmentosa
RS794726956 CHST14 Health Risk Pathogenic —
RS794726957 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS794726959 ARX Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS794726964 NHLRC1 Health Risk Pathogenic —
RS794726967 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS794726968 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS794726969 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS794726971 GALT Health Risk Pathogenic —
RS794726972 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS794726973 GUSB Health Risk Conflicting classifications of pathogenicity —
RS794726974 JAG1 Health Risk Pathogenic —
RS794726975 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 1
RS794726976 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS794726979 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS794726983 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS794726987 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS794726989 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS794726991 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 15, Retinitis pigmentosa 14
RS794726993 DMD Health Risk Pathogenic Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS794726994 DMD Health Risk Pathogenic —
RS794726996 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS794727001 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS794727003 SCN2A Health Risk Likely pathogenic —
RS794727006 BBS1 Health Risk Pathogenic Retinal dystrophy, Bardet-Biedl syndrome
RS794727012 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS794727014 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS794727016 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS794727017 IDUA Health Risk Likely pathogenic —
RS794727019 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS794727025 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS794727026 COL2A1 Health Risk Pathogenic —
RS794727028 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS794727029 VRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pontocerebellar hypoplasia type 1A
RS794727030 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727031 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS794727032 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS794727035 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS794727037 PKHD1 Health Risk Pathogenic —
RS794727040 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727043 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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