SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886042141 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS886042145 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS886042146 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS886042150 MYCN Health Risk Pathogenic —
RS886042153 CEP290 Health Risk Pathogenic Cone-rod dystrophy, Joubert syndrome 1
RS886042154 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886042155 JAG1 Health Risk Pathogenic —
RS886042157 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS886042158 NEXMIF Health Risk Pathogenic —
RS886042160 LIFR Health Risk Pathogenic Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1
RS886042162 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-related disorder, FLNB-related disorder
RS886042168 GRIN2A Health Risk Pathogenic —
RS886042171 RYR1 Health Risk Pathogenic —
RS886042173 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS886042180 ACSL4 Health Risk Pathogenic —
RS886042181 EHMT1 Health Risk Pathogenic —
RS886042183 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS886042192 GBA1 Health Risk Pathogenic —
RS886042195 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS886042201 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS886042220 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS886042221 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS886042223 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS886042224 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS886042229 PURA Health Risk Pathogenic —
RS886042230 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS886042231 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS886042234 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886042238 SLC16A2 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS886042239 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS886042241 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS886042244 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS886042246 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS886042249 RB1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS886042250 CPT1A Health Risk Pathogenic —
RS886042253 KMT2D Health Risk Pathogenic —
RS886042258 BBS9 Health Risk Pathogenic —
RS886042259 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS886042260 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, COL1A1-related disorder
RS886042265 COQ8A Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS886042268 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS886042269 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS886042270 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS886042281 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS886042282 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886042283 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042284 KMT2D Health Risk Pathogenic —
RS886042285 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS886042286 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS886042288 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042289 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886042290 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS886042296 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886042297 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS886042298 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS886042299 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS886042303 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS886042307 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS886042308 COL1A1 Health Risk Likely pathogenic —
RS886042311 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS886042312 CHD7 Health Risk Pathogenic —
RS886042313 IGHMBP2 Health Risk Pathogenic —
RS886042316 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Episodic ataxia type 1
RS886042318 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS886042319 ABCA4 Health Risk Pathogenic —
RS886042320 ABCA4 Health Risk Pathogenic —
RS886042322 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS886042323 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS886042324 KCNQ4 Health Risk Conflicting classifications of pathogenicity —
RS886042331 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS886042332 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886042341 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS886042344 SLC45A2 Health Risk Pathogenic —
RS886042346 IGF1R Health Risk Likely pathogenic —
RS886042347 DMD Health Risk Pathogenic/Likely pathogenic —
RS886042348 DMD Health Risk Pathogenic/Likely pathogenic —
RS886042351 DMD Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS886042354 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886042356 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS886042357 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS886042358 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS886042359 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS886042360 CEP290 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis, Nephronophthisis
RS886042362 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS886042370 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS886042373 DMD Health Risk Pathogenic —
RS886042374 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886042376 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
RS886042379 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS886042380 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886042381 TJP2 Health Risk Pathogenic —
RS886042382 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042383 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS886042389 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886042391 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886042392 SMCHD1 Health Risk Conflicting classifications of pathogenicity Arrhinia with choanal atresia and microphthalmia syndrome, Arrhinia with choanal atresia and microphthalmia syndrome
RS886042395 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886042396 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS886042397 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042401 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
« Prev 1 ... 3934 3935 3936 3937 3938 3939 3940 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →