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
RS886043167 TECPR2 Health Risk Pathogenic —
RS886043170 DYSF Health Risk Pathogenic/Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS886043172 ANO5 Health Risk Pathogenic/Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS886043175 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886043180 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS886043182 SMCHD1 Health Risk Pathogenic —
RS886043187 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Collagen 6-related myopathy
RS886043189 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS886043191 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886043193 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS886043199 LMNA Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to LMNA mutation, Congenital muscular dystrophy due to LMNA mutation
RS886043201 RAB3GAP1 Health Risk Pathogenic —
RS886043202 RAB3GAP1 Health Risk Pathogenic —
RS886043203 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS886043213 FREM2 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 2, Isolated cryptophthalmia
RS886043215 ERCC8 Health Risk Conflicting classifications of pathogenicity —
RS886043219 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS886043220 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886043221 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS886043222 CAPN3 Health Risk Pathogenic/Likely pathogenic —
RS886043225 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043228 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS886043231 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS886043233 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS886043234 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS886043236 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS886043237 GRIN2B Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS886043238 ATP7B Health Risk Pathogenic/Likely pathogenic —
RS886043239 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS886043240 PTPRQ Health Risk Pathogenic —
RS886043241 POLG Health Risk Likely pathogenic Mitochondrial disease, Progressive sclerosing poliodystrophy
RS886043242 CLN3 Health Risk Pathogenic —
RS886043243 CAMTA1 Health Risk Likely pathogenic —
RS886043244 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS886043247 RB1 Health Risk Pathogenic Retinoblastoma, Neoplasm
RS886043248 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS886043249 ASPM Health Risk Pathogenic —
RS886043250 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS886043251 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043252 KMT2D Health Risk Pathogenic —
RS886043253 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS886043258 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS886043260 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Congenital muscular dystrophy due to LMNA mutation
RS886043262 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS886043265 AGPAT2 Health Risk Pathogenic —
RS886043268 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS886043269 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043270 COL6A2 Health Risk Pathogenic —
RS886043279 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886043283 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043285 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS886043287 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS886043288 DMD Health Risk Pathogenic —
RS886043291 COL6A1 Health Risk Pathogenic —
RS886043293 RPS6KA3 Health Risk Pathogenic —
RS886043294 UQCRB Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 3, Mitochondrial complex III deficiency nuclear type 3
RS886043295 DNAJC5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS886043296 CDKL5 Health Risk Pathogenic —
RS886043300 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS886043303 CEP290 Health Risk Pathogenic Blindness, Global developmental delay
RS886043307 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS886043311 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS886043313 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS886043314 MED13L Health Risk Pathogenic —
RS886043316 WDR35 Health Risk Pathogenic —
RS886043317 OPA1 Health Risk Pathogenic —
RS886043321 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043323 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043324 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS886043325 POMT1 Health Risk Conflicting classifications of pathogenicity —
RS886043327 ANO5 Health Risk Pathogenic/Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS886043328 DYSF Health Risk Pathogenic —
RS886043330 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043332 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886043333 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886043337 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS886043340 OPA1 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS886043341 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886043342 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS886043343 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS886043344 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886043346 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS886043347 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Inborn genetic diseases
RS886043348 DMD Health Risk Pathogenic —
RS886043349 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS886043350 PAX6 Health Risk Pathogenic —
RS886043351 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043354 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043356 COL2A1 Health Risk Pathogenic/Likely pathogenic Spondyloperipheral dysplasia, Stickler syndrome type 1
RS886043360 IGF1R Health Risk Conflicting classifications of pathogenicity —
RS886043361 ROR2 Health Risk Conflicting classifications of pathogenicity —
RS886043364 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS886043366 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS886043368 IHH Health Risk Conflicting classifications of pathogenicity —
RS886043369 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS886043371 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS886043372 CHRNA1 Health Risk Conflicting classifications of pathogenicity —
RS886043374 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS886043375 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS886043376 DMD Health Risk Pathogenic —
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