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
RS886041881 KMT2A Health Risk Pathogenic —
RS886041882 ARID2 Health Risk Pathogenic —
RS886041883 KAT6B Health Risk Pathogenic —
RS886041884 CHD8 Health Risk Pathogenic —
RS886041885 COL7A1 Health Risk Pathogenic —
RS886041886 UBE3B Health Risk Pathogenic —
RS886041888 PDCD10 Health Risk Pathogenic —
RS886041889 ANKRD11 Health Risk Pathogenic —
RS886041890 KCNQ2 Health Risk Pathogenic —
RS886041891 WAC Health Risk Pathogenic —
RS886041892 BCAP31 Health Risk Pathogenic —
RS886041893 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS886041894 PURA Health Risk Pathogenic —
RS886041895 COL2A1 Health Risk Pathogenic/Likely pathogenic See cases, Spondyloepiphyseal dysplasia
RS886041896 KMT2A Health Risk Pathogenic Inborn genetic diseases, Wiedemann-Steiner syndrome
RS886041897 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS886041899 KDM6A Health Risk Pathogenic —
RS886041900 CDHR1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS886041901 CTCF Health Risk Pathogenic —
RS886041902 SMC1A Health Risk Pathogenic —
RS886041903 ATRX Health Risk Pathogenic —
RS886041904 COL1A1 Health Risk Pathogenic —
RS886041905 TSC2 Health Risk Pathogenic —
RS886041906 CTLA4 Health Risk Pathogenic/Likely pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS886041907 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS886041909 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS886041910 TCF4 Health Risk Pathogenic —
RS886041911 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS886041912 WDR19 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS886041913 MSH6 Health Risk Pathogenic —
RS886041914 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS886041915 PLEC Health Risk Pathogenic —
RS886041916 RAI1 Health Risk Pathogenic —
RS886041917 STXBP1 Health Risk Pathogenic —
RS886041918 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886041919 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS886041920 AHDC1 Health Risk Pathogenic —
RS886041921 SMCHD1 Health Risk Pathogenic —
RS886041922 TSC2 Health Risk Pathogenic —
RS886041923 SOS1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886041925 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS886041926 SCN1A Health Risk Pathogenic —
RS886041930 HPRT1 Health Risk Pathogenic —
RS886041931 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS886041933 CHD7 Health Risk Pathogenic —
RS886041935 COL2A1 Health Risk Pathogenic —
RS886041936 HDAC8 Health Risk Pathogenic 6 conditions, Inborn genetic diseases
RS886041937 SCN1A Health Risk Pathogenic —
RS886041938 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS886041939 SCN1A Health Risk Pathogenic —
RS886041940 TSC2 Health Risk Pathogenic —
RS886041942 ANKRD11 Health Risk Pathogenic KBG syndrome, ANKRD11-related disorder
RS886041943 PTCH1 Health Risk Pathogenic —
RS886041944 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS886041945 COL2A1 Health Risk Pathogenic —
RS886041946 KDM6A Health Risk Pathogenic Medulloblastoma non-WNT/non-SHH group 4, Familial prostate cancer
RS886041947 KMT2A Health Risk Pathogenic —
RS886041948 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS886041949 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS886041950 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS886041951 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS886041954 SMARCA2 Health Risk Pathogenic —
RS886041955 MAGEL2 Health Risk Pathogenic —
RS886041956 CSNK2A1 Health Risk Pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS886041957 MMUT Health Risk Pathogenic —
RS886041958 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Noonan syndrome 9
RS886041959 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS886041960 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS886041961 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy 6B, Early-infantile DEE
RS886041963 DDX3X Health Risk Pathogenic —
RS886041964 AP1S2 Health Risk Pathogenic —
RS886041965 COL4A1 Health Risk Pathogenic —
RS886041966 CPLANE1 Health Risk Pathogenic —
RS886041967 SLC22A5 Health Risk Pathogenic —
RS886041968 CHD8 Health Risk Pathogenic —
RS886041969 SCN1A Health Risk Pathogenic —
RS886041970 SON Health Risk Pathogenic —
RS886041971 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS886041972 CRLF1 Health Risk Pathogenic —
RS886041973 NHEJ1 Health Risk Pathogenic —
RS886041974 HSD17B10 Health Risk Pathogenic/Likely pathogenic HSD10 mitochondrial disease, HSD10 mitochondrial disease
RS886041975 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS886041976 ANKRD11 Health Risk Pathogenic —
RS886041977 TSC1 Health Risk Pathogenic —
RS886041978 STXBP1 Health Risk Pathogenic Infantile epilepsy syndrome, Developmental and epileptic encephalopathy
RS886041979 NOTCH2 Health Risk Pathogenic —
RS886041980 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS886041981 SLC2A1 Health Risk Pathogenic —
RS886041982 SCN1A Health Risk Pathogenic —
RS886041983 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS886041984 PALB2 Health Risk Likely pathogenic —
RS886041985 PHKA2 Health Risk Pathogenic —
RS886041986 KCTD1 Health Risk Pathogenic —
RS886041987 KAT6B Health Risk Likely pathogenic —
RS886041988 CHAMP1 Health Risk Pathogenic CHAMP1-related syndrome, CHAMP1-related syndrome
RS886041989 ZEB2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Mowat-Wilson syndrome
RS886041990 NPHP3 Health Risk Pathogenic/Likely pathogenic NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1
RS886041991 CNTNAP2 Health Risk Pathogenic —
RS886041992 OFD1 Health Risk Pathogenic —
RS886041993 DYRK1A Health Risk Pathogenic —
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