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
RS2528256187 USH2A Health Risk Pathogenic —
RS2528256277 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2528256357 USH2A Health Risk Pathogenic —
RS2528256387 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2528256417 USH2A Health Risk Pathogenic —
RS2528256600 USH2A Health Risk Likely pathogenic USH2A-related disorder, USH2A-related disorder
RS2528256628 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528256644 USH2A Health Risk Likely pathogenic —
RS2528257059 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528257076 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2528257197 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2, Usher syndrome type 2A
RS2528261065 GGPS1 Health Risk Likely pathogenic Myopathy with tubular aggregates, Myopathy with tubular aggregates
RS2528278346 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2528278649 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2528279313 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2528279555 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2528280263 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2528281424 DENND5A Health Risk Pathogenic —
RS2528283195 NBAS Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS2528287611 NBAS Health Risk Likely pathogenic —
RS2528295554 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2528301563 SEMA4A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2528308020 EIF2AK3 Health Risk Likely pathogenic —
RS2528308185 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2528308360 EIF2AK3 Health Risk Pathogenic —
RS2528308390 EIF2AK3 Health Risk Pathogenic —
RS2528309114 EIF2AK3 Health Risk Pathogenic —
RS2528311007 BOLA3 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
RS2528319905 SPR Health Risk Likely pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS2528336317 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528336328 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528337010 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528353811 LRP2 Health Risk Pathogenic —
RS2528367903 LRP2 Health Risk Pathogenic —
RS2528375213 LRP2 Health Risk Pathogenic —
RS2528377417 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS2528379037 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2528380839 COQ8A Health Risk Pathogenic —
RS2528380932 COQ8A Health Risk Pathogenic —
RS2528381693 PRUNE1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, hypotonia
RS2528382225 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS2528389328 LRP2 Health Risk Pathogenic —
RS2528389720 LRP2 Health Risk Pathogenic —
RS2528389966 LRP2 Health Risk Pathogenic —
RS2528390555 LRP2 Health Risk Likely pathogenic —
RS2528390756 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS2528396616 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2528396653 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528396904 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2528396945 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS2528397182 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS2528397232 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528397405 LRP2 Health Risk Pathogenic —
RS2528397565 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528397763 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528397772 OBSCN Health Risk Pathogenic —
RS2528398503 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528398808 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528399077 LRP2 Health Risk Pathogenic —
RS2528399236 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2528399305 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS2528399365 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528399382 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS2528399484 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528399575 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528399751 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2528400092 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528400331 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528400393 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2528400578 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528400662 CENPF Health Risk Pathogenic —
RS2528400740 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS2528400933 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS2528401180 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528401276 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528401443 LRP2 Health Risk Pathogenic —
RS2528401479 LRP2 Health Risk Pathogenic —
RS2528401535 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528401829 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528401856 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS2528401900 LRP2 Health Risk Likely pathogenic —
RS2528402457 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS2528402587 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528402698 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2528402946 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528403306 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528403442 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528403709 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528403825 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2528403978 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528404053 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528404439 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528404670 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528407432 RPIA Health Risk Pathogenic —
RS2528412329 COQ8A Health Risk Pathogenic/Likely pathogenic —
RS2528412539 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS2528412973 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS2528423787 LRP2 Health Risk Pathogenic —
RS2528426718 NBAS Health Risk Pathogenic —
RS2528426837 NBAS Health Risk Pathogenic —
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