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
RS201765973 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS201766077 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS201766106 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, ABCC6-related disorder
RS201766654 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS201766777 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS201767389 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS201767549 ACACB Health Risk Conflicting classifications of pathogenicity —
RS201767727 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS201767825 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201767875 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS201768497 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201768549 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS201768590 TMEM38B Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS201769196 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS201769220 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS201769233 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS201769828 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis
RS201769990 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS201770808 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS201770959 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201771042 SLC4A11 Health Risk Likely pathogenic —
RS201771215 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS201771255 SPTA1 Health Risk Conflicting classifications of pathogenicity SPTA1-related disorder, SPTA1-related disorder
RS201771478 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS201771736 CEP97 Health Risk Conflicting classifications of pathogenicity —
RS201771769 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS201771783 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS201771867 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS201772198 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201772330 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS201772423 FUS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 6
RS2017727647 MYH9 Health Risk Likely pathogenic May-Hegglin Disorder, May-Hegglin Disorder
RS201772964 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS201773026 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201773066 NTRK2 Health Risk Conflicting classifications of pathogenicity —
RS201773172 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS201773631 FGFR1 Health Risk Conflicting classifications of pathogenicity Trigonocephaly 1, Hypogonadotropic hypogonadism 2 with or without anosmia
RS201773965 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS201774037 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Microcephaly 6
RS201774040 PRKAR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney complex
RS201774098 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS201774108 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201774333 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases
RS201774398 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201774530 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 88, Occult macular dystrophy
RS201774541 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS201774571 HNRNPDL Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
RS201774661 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, X-linked cerebral adrenoleukodystrophy
RS201774834 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS201775031 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS201775041 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201775186 TSEN54 Health Risk Pathogenic —
RS201775281 RUBCN Health Risk Conflicting classifications of pathogenicity —
RS201775498 POGZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201775925 ACY1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201775968 CDH2 Health Risk Pathogenic Axon pathfinding, cardiac
RS201776005 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS201776257 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ASXL3-related disorder
RS201776268 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS201776550 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Inborn genetic diseases
RS201776669 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS201776800 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS201776972 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS201777056 ABCD4 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblJ
RS201777089 GRM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201777208 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus
RS201777449 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS201777525 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS201777691 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS201777730 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Interstitial lung disease due to ABCA3 deficiency
RS201777829 KIFBP Health Risk Conflicting classifications of pathogenicity Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS201778105 DKK3 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS201778172 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS201778577 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS201778811 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201779159 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS201779392 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS201779762 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS201779890 RBM8A Health Risk Pathogenic/Likely pathogenic/Pathogenic, low penetrance Radial aplasia-thrombocytopenia syndrome, Global developmental delay
RS201779956 B3GAT3 Health Risk Conflicting classifications of pathogenicity Larsen-like syndrome, B3GAT3 type
RS201779957 RAG1 Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS201780168 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, Inborn genetic diseases
RS201780199 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201780608 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS201780665 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Ellis-van Creveld syndrome
RS201781110 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS201781905 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 4B
RS201781919 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS201782441 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Neu-Laxova syndrome 1
RS201782543 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS201782746 CNGA3 Health Risk Pathogenic Retinal dystrophy, Achromatopsia 2
RS201782959 IRAK4 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 67, Inborn genetic diseases
RS201783071 NDE1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 4, Lissencephaly 4
RS201783160 KCTD1 Health Risk Conflicting classifications of pathogenicity —
RS201783245 OTOF Health Risk Conflicting classifications of pathogenicity —
RS201783863 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS201783992 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201784173 PYCR2 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS201784750 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS201785444 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
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