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
RS797044914 NDUFA1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044915 COL11A2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044916 CDC42 Health Risk Pathogenic Inborn genetic diseases, Neurodevelopmental disorder
RS797044917 OFD1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044918 DYNC1H1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS797044919 CHD7 Health Risk Pathogenic Inborn genetic diseases, CHARGE syndrome
RS797044920 BICD2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044921 PHKA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease IXa1
RS797044922 PTCHD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044924 PIGA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS797044925 GRIN1 Health Risk Pathogenic Inborn genetic diseases, Neurodevelopmental disorder with or without hyperkinetic movements and seizures
RS797044926 LAS1L Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044927 SCN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS797044928 DYNC1H1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044929 KCNA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Episodic ataxia type 1
RS797044930 GRIN2B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS797044931 HDAC1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044932 IQSEC2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044933 SCN3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044934 ALS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis
RS797044935 KCNQ2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044937 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044938 KCNQ2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS797044939 NTF4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044940 LAMA1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044941 MPZ Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease
RS797044942 NF1 Health Risk Pathogenic Inborn genetic diseases, Neurofibromatosis
RS797044943 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS797044944 PURA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044945 OFD1 Health Risk Pathogenic Inborn genetic diseases, Orofaciodigital syndrome I
RS797044947 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Porencephaly 2
RS797044948 VPS35 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044949 COL1A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044951 GNAO1 Health Risk Likely pathogenic Inborn genetic diseases, Neurodevelopmental disorder with involuntary movements
RS797044952 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044953 SETD5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044955 ITPR1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Spinocerebellar ataxia type 29
RS797044956 JAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alagille syndrome due to a JAG1 point mutation
RS797044957 DLAT Health Risk Likely pathogenic Inborn genetic diseases, Pyruvate dehydrogenase E2 deficiency
RS797044959 ACTG2 Health Risk Pathogenic Inborn genetic diseases, Chronic intestinal pseudoobstruction
RS797044960 SIX1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
RS797044961 CHAMP1 Health Risk Pathogenic intellectual disability with severe speech impairment, Intellectual disability
RS797044962 CHAMP1 Health Risk Pathogenic intellectual disability with severe speech impairment, Intellectual disability
RS797044963 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS797044965 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS797044966 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Nonsyndromic genetic hearing loss
RS797044967 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS797044968 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS797044969 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS797044970 KCNQ4 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS797044972 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS797044973 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS797044974 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS797044981 SCN1A Health Risk Pathogenic —
RS797044982 SCN1A Health Risk Pathogenic —
RS797044983 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS797044984 SCN1A Health Risk Pathogenic —
RS797044985 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS797044987 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS797044988 COL6A3 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS797044989 ITGA3 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 7
RS797044990 SRGAP1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS797044992 WDR73 Health Risk Pathogenic/Likely pathogenic Galloway-Mowat syndrome 1, Nephrotic syndrome
RS797044993 WDR73 Health Risk Likely pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS797044994 WDR73 Health Risk Pathogenic Galloway-Mowat syndrome 1, Nephrotic syndrome
RS797044995 WDR73 Health Risk Pathogenic/Likely pathogenic Galloway-Mowat syndrome 1, Nephrotic syndrome
RS797044998 LGI1 Health Risk Pathogenic Epilepsy, familial temporal lobe
RS797044999 LGI1 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial temporal lobe
RS797045001 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS797045002 ADCY5 Health Risk Pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS797045003 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS797045004 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS797045005 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS797045008 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen phosphorylase kinase deficiency
RS797045009 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS797045011 LMNA Health Risk Conflicting classifications of pathogenicity Hutchinson-Gilford syndrome, Cardiomyopathy
RS797045012 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS797045013 SCN8A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 13
RS797045014 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS797045016 XRCC4 Health Risk Pathogenic Short stature, microcephaly
RS797045017 XRCC4 Health Risk Pathogenic Short stature, microcephaly
RS797045018 THOC2 Health Risk Pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS797045019 THOC2 Health Risk Pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS797045020 THOC2 Health Risk Pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS797045021 THOC2 Health Risk Pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS797045022 TBX18 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract 2, Congenital anomalies of kidney and urinary tract 2
RS797045023 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS797045024 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS797045025 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS797045026 DDX3X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 102
RS797045027 ANKRD11 Health Risk Pathogenic KBG syndrome, Inborn genetic diseases
RS797045028 ANTXR2 Health Risk Pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS797045029 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS797045030 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS797045031 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS797045032 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS797045033 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS797045034 COL4A1 Health Risk Pathogenic/Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, COL4A1-related disorder
RS797045035 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS797045036 CRBN Health Risk Likely pathogenic Intellectual disability, autosomal recessive 2
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