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
RS1057519995 TP53 Health Risk Conflicting classifications of pathogenicity Ovarian neoplasm, Li-Fraumeni syndrome
RS1057519996 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Ovarian neoplasm
RS1057519997 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Ovarian neoplasm
RS1057519998 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057519999 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1057520000 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057520001 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Ovarian neoplasm
RS1057520002 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057520003 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057520004 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057520005 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Lip and oral cavity carcinoma
RS1057520006 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057520007 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057520008 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS1057520032 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, B Lymphoblastic Leukemia/Lymphoma with t(v
RS1057520039 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Melanoma
RS1057520041 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1057520042 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1057520046 TUBB Health Risk Likely pathogenic —
RS1057520049 VPS13A Health Risk Likely pathogenic —
RS1057520050 KANSL1 Health Risk Likely pathogenic —
RS1057520053 KMT2A Health Risk Pathogenic —
RS1057520055 GRIN1 Health Risk Likely pathogenic —
RS1057520056 MED13L Health Risk Likely pathogenic —
RS1057520058 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1057520063 GLI3 Health Risk Pathogenic/Likely pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1057520064 HIKESHI Health Risk Likely pathogenic —
RS1057520065 HNRNPU Health Risk Pathogenic —
RS1057520070 CCM2 Health Risk Pathogenic —
RS1057520072 CREBBP Health Risk Pathogenic —
RS1057520076 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS1057520078 OCRL Health Risk Pathogenic —
RS1057520080 ADGRV1 Health Risk Pathogenic/Likely pathogenic —
RS1057520081 TRIOBP Health Risk Likely pathogenic —
RS1057520085 TMEM216 Health Risk Likely pathogenic Joubert syndrome 2, Joubert syndrome
RS1057520088 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057520090 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS1057520098 TCN2 Health Risk Pathogenic/Likely pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS1057520099 MT-TH Health Risk Conflicting classifications of pathogenicity MELAS syndrome, MELAS syndrome
RS1057520100 DOCK7 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 23
RS1057520101 AIMP1 Health Risk Pathogenic/Likely pathogenic —
RS1057520104 ERCC4 Health Risk Likely pathogenic —
RS1057520107 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS1057520108 PGAP3 Health Risk Likely pathogenic —
RS1057520109 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1057520110 ELANE Health Risk Pathogenic/Likely pathogenic —
RS1057520111 CHST3 Health Risk Likely pathogenic —
RS1057520116 GRIN2A Health Risk Likely pathogenic —
RS1057520122 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1057520127 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1057520131 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1057520132 TCF12 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 26 with or without anosmia, Hypogonadotropic hypogonadism 26 with or without anosmia
RS1057520134 SYNE1 Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1057520136 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1057520142 POMT1 Health Risk Likely pathogenic —
RS1057520148 TTN;TTN-AS1 Health Risk Pathogenic —
RS1057520149 SCN8A Health Risk Pathogenic/Likely pathogenic Intellectual disability, Seizure
RS1057520152 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 8
RS1057520154 CACNA1A Health Risk Pathogenic —
RS1057520159 IARS1 Health Risk Pathogenic/Likely pathogenic —
RS1057520162 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, RPGRIP1L-related disorder
RS1057520165 LAMC3 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS1057520166 ARFGEF2 Health Risk Likely pathogenic —
RS1057520167 KMT2D Health Risk Likely pathogenic —
RS1057520168 IRF6 Health Risk Pathogenic —
RS1057520174 RDX Health Risk Likely pathogenic —
RS1057520175 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1057520177 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1057520178 LMX1B Health Risk Pathogenic —
RS1057520181 FBN1 Health Risk Pathogenic —
RS1057520186 GLRA1 Health Risk Likely pathogenic —
RS1057520188 PRDM16 Health Risk Pathogenic —
RS1057520191 CREBBP Health Risk Likely pathogenic —
RS1057520198 KDM5C Health Risk Likely pathogenic —
RS1057520200 GPR143 Health Risk Pathogenic —
RS1057520203 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1057520205 CIT Health Risk Likely pathogenic —
RS1057520208 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1057520209 ANOS1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS1057520210 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS1057520211 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1057520212 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1057520213 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1057520214 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1057520215 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1057520216 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS1057520217 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1057520218 ADCY5 Health Risk Likely pathogenic —
RS1057520224 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS1057520233 ATP2B2 Health Risk Conflicting classifications of pathogenicity ATP2B2-related Progressive hearing impairment, ATP2B2-related Progressive hearing impairment
RS1057520234 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1057520235 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1057520237 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1057520246 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057520249 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057520261 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1057520267 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1057520275 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1057520280 ERCC8 Health Risk Likely pathogenic —
RS1057520291 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
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