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
RS780389237 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS780389591 OBSL1 Health Risk Likely pathogenic —
RS780389854 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS780390034 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS780390487 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS780391043 CHRNB1 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS780391061 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS780391343 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS780391814 ATP1A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780392037 UMPS Health Risk Conflicting classifications of pathogenicity Oroticaciduria, Oroticaciduria
RS780392692 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS780393027 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS78039319 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS780393504 RAB23 Health Risk Pathogenic Carpenter syndrome, Carpenter syndrome
RS780393773 ZNF335 Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to ZNF335 deficiency, Aminoacylase 1 deficiency
RS780394696 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, WFS1-related disorder
RS780395319 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS780395429 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS780396107 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS780398462 CYP11B1 Health Risk Pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS780399417 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS780400029 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS780401493 NDUFAF1 Health Risk Likely pathogenic —
RS780402445 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS780404339 IFT43 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Short-rib thoracic dysplasia 18 with polydactyly
RS780405372 C3 Health Risk Likely pathogenic —
RS780405420 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS780406337 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780406577 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS780407909 TYRP1 Health Risk Pathogenic —
RS780408550 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS780409021 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS780411290 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS780411647 CFH Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS780412409 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS780412565 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS780414230 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS780414810 MAN1B1 Health Risk Pathogenic/Likely pathogenic Rafiq syndrome, Rafiq syndrome
RS780414947 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS780415493 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780415585 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS780415750 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS780416632 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS780417929 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS780418110 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS780419708 ANKRD1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
RS780419796 CEL Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS780420241 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS780420901 ALOX12B Health Risk Conflicting classifications of pathogenicity Ichthyosis, Autosomal recessive congenital ichthyosis 2
RS780421288 TRMT10C Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 30, Combined oxidative phosphorylation defect type 30
RS780421370 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS780421901 CEP112 Health Risk Pathogenic Spermatogenic failure 44, Spermatogenic failure 44
RS780422336 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS780422345 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS780422377 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780422688 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS780423161 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS780423740 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Polycystic liver disease 1
RS780424034 LAMB3 Health Risk Pathogenic —
RS780424104 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS780424781 EDAR Health Risk Pathogenic Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS780425464 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS780427259 B4GALT7 Health Risk Pathogenic Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS780427871 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome with renal defect
RS780428043 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS78042826 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS780429591 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Angelman syndrome
RS780430071 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS780431020 TTC21A Health Risk Pathogenic Spermatogenic failure 37, Spermatogenic failure 37
RS780431086 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS780431445 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Hereditary cancer-predisposing syndrome
RS780432814 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS780433094 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS780433336 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS780433836 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS780433845 TYRP1 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR
RS780434261 PTCH1 Health Risk Pathogenic —
RS780434899 PLAG1 Health Risk Likely pathogenic Silver-russell syndrome 4, Silver-russell syndrome 4
RS780435919 F9 Health Risk Pathogenic/Likely pathogenic Thrombophilia, X-linked
RS780436043 AIFM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy
RS780436747 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS780437149 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS780437384 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS780437859 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS780438592 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS780439412 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS780439529 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Inborn genetic diseases
RS780439710 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS780440401 GALNT3 Health Risk Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS780440452 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780441372 IRF2BPL Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS780441704 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS780441716 DYRK1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, DYRK1A-related intellectual disability syndrome
RS780441925 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS780442112 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS780442292 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS780442672 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS780442858 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS780443391 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS780444488 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
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