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
RS779893091 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS779893448 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS779894269 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS779894573 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS779895718 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS779895958 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS779896449 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS779896782 DHCR7 Health Risk Conflicting classifications of pathogenicity Small for gestational age, 2-3 toe syndactyly
RS779897284 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS779897294 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS779897466 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer
RS779898173 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS779898882 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS779899032 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS779899559 COG8 Health Risk Likely pathogenic —
RS779900397 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS779900587 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS779900843 CLCN7 Health Risk Likely pathogenic —
RS779901247 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS779901891 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS779902531 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS779903522 NR2E3 Health Risk Conflicting classifications of pathogenicity Goldmann-Favre syndrome, Enhanced S-cone syndrome
RS779904655 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS779905135 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS779906163 RGS9 Health Risk Pathogenic —
RS779906300 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS779907001 AFG2B Health Risk Pathogenic SPATA5L1-associated disorder, SPATA5L1-associated disorder
RS779907293 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS779908220 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS779908241 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 4B
RS779909544 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS779909747 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS779909774 EPS8L2 Health Risk Pathogenic —
RS779910083 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS779910353 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS779910477 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS779910894 TULP1 Health Risk Pathogenic Leber congenital amaurosis 15, Retinitis pigmentosa 14
RS779910932 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS779913610 FBN1 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia, Stiff skin syndrome
RS779913921 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS779915495 RARS1 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 9, Leukodystrophy
RS779915615 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS779915700 JPH2 Health Risk Conflicting classifications of pathogenicity JPH2-related disorder, Cardiovascular phenotype
RS779915885 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS779915989 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS779916426 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS779919032 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS779919472 LDB3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Myofibrillar myopathy 4
RS779919482 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS779920568 CSTB Health Risk Conflicting classifications of pathogenicity Unverricht-Lundborg syndrome, Unverricht-Lundborg syndrome
RS779921465 COL12A1 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS779921498 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS779921624 HPS5 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 5
RS779923053 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779923532 CDC73 Health Risk Likely pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS779924826 NSUN3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS779925106 CACNB2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 4
RS779925213 TTC19 Health Risk Likely pathogenic —
RS779927550 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS779927660 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS779928593 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS779928749 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS779928926 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS779929078 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS779929859 TYR Health Risk Pathogenic/Likely pathogenic TYR-related disorder, Oculocutaneous albinism type 1A
RS779930511 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS779930519 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS779930597 NALCN Health Risk Pathogenic —
RS779931367 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS779931477 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS779931959 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS779932118 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS779932163 DDC Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Deficiency of aromatic-L-amino-acid decarboxylase
RS779933527 SOX10 Health Risk Conflicting classifications of pathogenicity PCWH syndrome, PCWH syndrome
RS779934502 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS779935453 RP1L1 Health Risk Likely pathogenic —
RS779935967 LRP5 Health Risk Conflicting classifications of pathogenicity Osteoporosis with pseudoglioma, Inborn genetic diseases
RS779939886 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS779940524 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS779940754 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS779941077 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases
RS779941675 SLC3A1 Health Risk Pathogenic Cystine urolithiasis, Cystinuria
RS779942952 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS779943125 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS779943223 RUNX2 Health Risk Conflicting classifications of pathogenicity Cleidocranial dysostosis, Inborn genetic diseases
RS779943229 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS779944215 ADCY10 Health Risk Pathogenic Reduced sperm motility, Abnormal sperm morphology
RS779944676 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS779945112 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS779945354 CNGB3 Health Risk Likely pathogenic —
RS779945821 CDC40 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia, type 15
RS77994592 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS779946576 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779948053 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS779948148 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Neurodevelopmental delay
RS779948294 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS779948710 ADGRV1 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Ear malformation
RS779948923 TTN Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1G
RS779949554 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS779951024 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
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