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
RS794727238 HPRT1 Health Risk Conflicting classifications of pathogenicity Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS794727239 IDUA Health Risk Conflicting classifications of pathogenicity Hurler syndrome, Mucopolysaccharidosis type 1
RS794727240 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS794727242 PTCH1 Health Risk Pathogenic/Likely pathogenic —
RS794727249 GLB1 Health Risk Pathogenic —
RS794727252 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS794727253 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS794727261 COL2A1 Health Risk Pathogenic 14 conditions, 15 conditions
RS794727262 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS794727264 GUCA1B Health Risk Conflicting classifications of pathogenicity —
RS794727268 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions
RS794727270 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Congenital cerebellar hypoplasia
RS794727272 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727274 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS794727275 MMP2 Health Risk Pathogenic —
RS794727279 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS794727281 NRL Health Risk Pathogenic Retinitis pigmentosa 27, Retinitis pigmentosa 27
RS794727283 SLC2A1 Health Risk Conflicting classifications of pathogenicity Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS794727285 NEK1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS794727286 GREM1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS794727287 OSTM1 Health Risk Pathogenic Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS794727289 OPA1 Health Risk Pathogenic —
RS794727290 DYM Health Risk Pathogenic —
RS794727291 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS794727293 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS794727294 CHD7 Health Risk Conflicting classifications of pathogenicity CHD7-related disorder, CHARGE syndrome
RS794727295 CHD7 Health Risk Pathogenic —
RS794727298 CHD7 Health Risk Pathogenic —
RS794727301 ALG1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS794727302 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS794727303 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS794727305 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS794727308 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS794727316 KIF7 Health Risk Pathogenic/Likely pathogenic Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS794727318 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS794727319 COL1A1 Health Risk Likely pathogenic —
RS794727320 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS794727322 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727323 DMD Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS794727324 RAB3GAP1 Health Risk Pathogenic/Likely pathogenic —
RS794727329 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS794727332 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS794727333 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS794727334 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS794727337 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS794727339 COL2A1 Health Risk Pathogenic COL2A1-related disorder, COL2A1-related disorder
RS794727342 KMT2D Health Risk Pathogenic —
RS794727343 DYSF Health Risk Pathogenic —
RS794727345 OPA1 Health Risk Pathogenic —
RS794727347 ADGRV1 Health Risk Pathogenic —
RS794727349 NPHP3 Health Risk Pathogenic —
RS794727350 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS794727355 CACNA1A Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS794727356 SPTAN1 Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Developmental and epileptic encephalopathy
RS794727357 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727358 DMD Health Risk Pathogenic —
RS794727359 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727361 SCN8A Health Risk Pathogenic/Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Developmental and epileptic encephalopathy
RS794727362 SCN8A Health Risk Likely pathogenic —
RS794727364 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS794727365 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS794727366 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS794727371 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS794727372 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS794727373 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS794727377 COL2A1 Health Risk Pathogenic Kniest dysplasia, Stickler syndrome type 1
RS794727379 KMT2D Health Risk Pathogenic —
RS794727381 DSP Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS794727387 TTN Health Risk Likely pathogenic —
RS794727389 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS794727391 CREBBP Health Risk Pathogenic —
RS794727392 OPA1 Health Risk Pathogenic OPA1-related disorder, Inborn genetic diseases
RS794727394 COL1A1 Health Risk Pathogenic —
RS794727395 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS794727396 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS794727397 COL4A5 Health Risk Pathogenic —
RS794727405 OPA1 Health Risk Pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS794727406 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727408 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS794727410 MYH7 Health Risk Conflicting classifications of pathogenicity 7 conditions, Cardiomyopathy
RS794727411 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Migraine
RS794727412 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS794727413 SCN1A Health Risk Likely pathogenic —
RS794727415 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS794727418 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS794727419 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS794727420 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS794727421 DMD Health Risk Pathogenic —
RS794727422 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727423 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, Inborn genetic diseases
RS794727435 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS794727436 CHD8 Health Risk Likely pathogenic —
RS794727438 COL2A1 Health Risk Likely pathogenic —
RS794727439 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS794727440 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS794727444 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS794727458 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS794727460 RYR1 Health Risk Pathogenic —
RS794727462 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS794727463 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
« Prev 1 ... 3757 3758 3759 3760 3761 3762 3763 ... 4010 Next »

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

Get Started Free →