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
RS1064796985 WDR19 Health Risk Likely pathogenic —
RS1064796986 WDR19 Health Risk Likely pathogenic —
RS1064796987 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064796988 OTOGL Health Risk Pathogenic/Likely pathogenic —
RS1064796989 STXBP1 Health Risk Pathogenic —
RS1064796990 SCN1A Health Risk Likely pathogenic —
RS1064796991 PRPF8 Health Risk Likely pathogenic —
RS1064796993 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS1064796995 KMT2D Health Risk Pathogenic —
RS1064796996 EHMT1 Health Risk Pathogenic —
RS1064796998 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS1064797000 IRF6 Health Risk Pathogenic —
RS1064797001 PHEX Health Risk Pathogenic —
RS1064797002 HDAC4 Health Risk Pathogenic Inborn genetic diseases, Profound intellectual disability
RS1064797011 HNRNPU Health Risk Pathogenic —
RS1064797012 ANKRD11 Health Risk Pathogenic —
RS1064797013 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1064797015 PRKAR1A Health Risk Pathogenic —
RS1064797017 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1064797019 SCN1A Health Risk Likely pathogenic —
RS1064797024 KMT2A Health Risk Pathogenic —
RS1064797027 GRIN1 Health Risk Pathogenic —
RS1064797028 NHEJ1 Health Risk Likely pathogenic —
RS1064797030 FOXG1 Health Risk Pathogenic —
RS1064797038 EP300 Health Risk Pathogenic —
RS1064797040 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1064797042 NHEJ1 Health Risk Pathogenic —
RS1064797043 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Neurodevelopmental abnormality
RS1064797046 RNASEH2B Health Risk Likely pathogenic —
RS1064797048 PHEX Health Risk Pathogenic —
RS1064797049 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1064797050 ANKRD11 Health Risk Pathogenic —
RS1064797051 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 20
RS1064797052 ATP6V1B1 Health Risk Pathogenic —
RS1064797055 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1064797056 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS1064797057 MEF2C Health Risk Likely pathogenic —
RS1064797059 FBN1 Health Risk Pathogenic/Likely pathogenic Acromicric dysplasia, Acromicric dysplasia
RS1064797064 MAP2K2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS1064797069 EFTUD2 Health Risk Pathogenic —
RS1064797071 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS1064797072 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1064797073 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS1064797074 DGKE Health Risk Likely pathogenic/Pathogenic, low penetrance Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome
RS1064797075 LPL Health Risk Likely pathogenic Hyperlipidemia, familial combined
RS1064797076 BSCL2 Health Risk Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 2, Lipodystrophy
RS1064797077 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS1064797078 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1064797079 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, 7 conditions
RS1064797080 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1064797081 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, 7 conditions
RS1064797082 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1064797083 FLI1 Health Risk Likely pathogenic Bleeding disorder, platelet-type
RS1064797084 FLI1 Health Risk Conflicting classifications of pathogenicity Bleeding disorder, platelet-type
RS1064797085 FLI1 Health Risk Pathogenic/Likely pathogenic Bleeding disorder, platelet-type
RS1064797086 FLI1 Health Risk Conflicting classifications of pathogenicity Bleeding disorder, platelet-type
RS1064797087 FLI1 Health Risk Pathogenic Bleeding disorder, platelet-type
RS1064797088 GJB2 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 3A, Autosomal dominant nonsyndromic hearing loss 3A
RS1064797090 GJB2 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 3A, Autosomal dominant nonsyndromic hearing loss 3A
RS1064797091 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1064797092 DACT1 Health Risk Pathogenic Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
RS1064797093 LGI4 Health Risk Pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS1064797094 LGI4 Health Risk Pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS1064797095 LGI4 Health Risk Pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS1064797096 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Autosomal dominant nonsyndromic hearing loss 1
RS1064797098 PPM1D Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS1064797099 PPM1D Health Risk Pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Familial cancer of breast
RS1064797100 PPM1D Health Risk Pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS1064797102 OTUD6B Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies, seizures
RS1064797103 OTUD6B Health Risk Likely pathogenic Intellectual disability, Epilepsy
RS1064797104 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1064797107 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1064797108 C1QB Health Risk Likely pathogenic —
RS1064797109 COL9A2 Health Risk Likely pathogenic —
RS1064797111 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1064797112 DOCK7 Health Risk Pathogenic —
RS1064797113 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, ABCA4-related disorder
RS1064797115 COL11A1 Health Risk Likely pathogenic Hearing loss, autosomal dominant 37
RS1064797126 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1064797128 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Leber congenital amaurosis
RS1064797129 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2
RS1064797130 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2
RS1064797133 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1064797134 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1064797136 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2, Usher syndrome type 2A
RS1064797137 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1064797138 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2, Usher syndrome type 2A
RS1064797148 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Retinal dystrophy
RS1064797149 LGI1 Health Risk Likely pathogenic —
RS1064797150 TWNK Health Risk Likely pathogenic —
RS1064797152 PGAP2 Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
RS1064797153 USH1C Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1064797157 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1064797160 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064797161 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064797162 KMT2A Health Risk Likely pathogenic —
RS1064797167 COL2A1 Health Risk Likely pathogenic —
RS1064797168 KMT2D Health Risk Likely pathogenic —
RS1064797169 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1064797170 TBK1 Health Risk Pathogenic/Likely pathogenic —
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