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
RS886041227 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Autosomal dominant hypophosphatemic rickets
RS886041228 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS886041231 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome
RS886041232 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS886041233 RHO Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS886041234 RMRP Health Risk Pathogenic —
RS886041235 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS886041236 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS886041237 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS886041238 SHANK3 Health Risk Pathogenic SHANK3-related disorder, Phelan-McDermid syndrome
RS886041239 SMC3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Cornelia de Lange syndrome 3
RS886041240 SNAP29 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 2, CEDNIK syndrome
RS886041241 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, RASopathy
RS886041242 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Camptomelic dysplasia
RS886041244 SPTA1 Health Risk Pathogenic —
RS886041245 SPTBN2 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS886041246 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS886041247 TBX5 Health Risk Pathogenic Aortic valve disease 2, Holt-Oram syndrome
RS886041248 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS886041249 TGIF1 Health Risk Likely pathogenic —
RS886041250 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS886041251 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, Ectrodactyly
RS886041252 UBE3A Health Risk Pathogenic —
RS886041253 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, VHL-related disorder
RS886041259 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS886041262 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS886041264 BRAF Health Risk Likely pathogenic —
RS886041265 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS886041266 ACTB Health Risk Likely pathogenic —
RS886041267 ACTB Health Risk Pathogenic —
RS886041268 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS886041269 PHEX Health Risk Pathogenic —
RS886041270 ACTB Health Risk Conflicting classifications of pathogenicity ACTB-related BAFopathy, Baraitser-Winter syndrome 1
RS886041272 EXT2 Health Risk Pathogenic Exostoses, multiple
RS886041273 MMP21 Health Risk Pathogenic/Likely pathogenic Heterotaxy, visceral
RS886041274 NIPBL Health Risk Pathogenic —
RS886041275 NIPBL Health Risk Pathogenic —
RS886041276 POLG Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS886041277 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS886041278 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS886041279 CACNA1A Health Risk Pathogenic Migraine, familial hemiplegic
RS886041280 ACTG1 Health Risk Likely pathogenic —
RS886041281 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, CTNNB1-related disorder
RS886041282 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS886041283 UBE3A Health Risk Pathogenic —
RS886041284 CASK Health Risk Pathogenic —
RS886041285 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS886041286 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS886041287 TTN Health Risk Conflicting classifications of pathogenicity —
RS886041288 HPRT1 Health Risk Pathogenic —
RS886041289 UBE3A Health Risk Pathogenic —
RS886041290 MYCN Health Risk Pathogenic —
RS886041291 DYRK1A Health Risk Pathogenic Global developmental delay, DYRK1A-related intellectual disability syndrome
RS886041292 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS886041293 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS886041294 MC2R Health Risk Pathogenic —
RS886041295 GRIN2B Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 27
RS886041296 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041297 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS886041298 HPRT1 Health Risk Pathogenic —
RS886041299 SMARCA2 Health Risk Conflicting classifications of pathogenicity —
RS886041300 KCNH1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Severe intellectual disability
RS886041302 CRPPA Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS886041303 CAPN5 Health Risk Pathogenic Proliferative vitreoretinopathy, Inborn genetic diseases
RS886041304 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS886041305 ACTB Health Risk Likely pathogenic Inborn genetic diseases, Baraitser-Winter syndrome 1
RS886041306 CASK Health Risk Pathogenic —
RS886041307 PROKR2 Health Risk Pathogenic —
RS886041308 GRIN2A Health Risk Pathogenic —
RS886041309 ACTB Health Risk Pathogenic/Likely pathogenic Intellectual disability, Baraitser-Winter syndrome 1
RS886041310 MAP2K2 Health Risk Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 4, RASopathy
RS886041312 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS886041314 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS886041315 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS886041316 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontoneocerebellar hypoplasia
RS886041317 OPA1 Health Risk Likely pathogenic —
RS886041318 OPA1 Health Risk Pathogenic OPA1-related disorder, Autosomal dominant optic atrophy classic form
RS886041319 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS886041320 MYBPC3 Health Risk Pathogenic —
RS886041321 TK2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS886041322 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS886041323 VPS13B Health Risk Pathogenic Cohen syndrome, VPS13B-related disorder
RS886041324 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS886041325 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS886041326 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS886041327 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS886041328 RPS6KA3 Health Risk Pathogenic —
RS886041329 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS886041330 RPS6KA3 Health Risk Pathogenic —
RS886041331 RPS6KA3 Health Risk Pathogenic —
RS886041332 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS886041333 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS886041334 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS886041335 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886041336 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS886041337 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS886041338 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS886041339 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS886041340 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS886041341 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
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