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
RS773555238 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS773555716 IFT140 Health Risk Likely pathogenic —
RS773555758 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773556807 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS773556943 CCT5 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy with spastic paraplegia, CCT5-related disorder
RS773557376 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS773558446 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS773559496 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS773560012 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS773561397 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773562141 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS773562442 ERCC6L2 Health Risk Pathogenic —
RS773564643 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS773566302 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS773566855 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Hypercholesterolemia
RS773567404 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773568773 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773569201 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS773569215 ADAMTSL4 Health Risk Pathogenic —
RS773569562 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773569563 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, HNF1B-related disorder
RS773569662 F5 Health Risk Pathogenic Factor V deficiency, Factor V deficiency
RS773570504 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS773570764 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773571503 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS773571672 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS773573633 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS773573968 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 21, Hearing loss
RS773574226 CHRNG Health Risk Pathogenic —
RS773574477 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773575515 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS773575924 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773576381 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS773577293 MYO18B Health Risk Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS773577908 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS773577974 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS773578133 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis
RS773579328 ADGRV1 Health Risk Pathogenic —
RS773579570 FARSB Health Risk Likely pathogenic Rajab interstitial lung disease with brain calcifications, Rajab interstitial lung disease with brain calcifications
RS773580012 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773580533 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS773580610 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS773581866 SLC2A2 Health Risk Pathogenic Type 2 diabetes mellitus, Fanconi-Bickel syndrome
RS773582901 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS773583869 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS773584143 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS773584363 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS773584864 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS773586473 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS773586510 ACAD9 Health Risk Pathogenic Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency
RS773586841 P3H2 Health Risk Pathogenic Myopia, high
RS773587801 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS773588375 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS773589185 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773589573 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS773589596 LARP7 Health Risk Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS773590163 JAK3 Health Risk Likely pathogenic —
RS773590570 INPP5E Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, MORM syndrome
RS773591135 PIGL Health Risk Likely pathogenic CHIME syndrome, Hyperphosphatasia with intellectual disability syndrome 1
RS773591333 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773592041 RPGRIP1 Health Risk Likely pathogenic —
RS773592266 DARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS773592493 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS773592526 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS773592865 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS773593740 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS773593843 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS773594502 TMEM67 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS773595457 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS773595533 DHX30 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases
RS773595628 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS773596047 ATR Health Risk Pathogenic —
RS773596817 EGFR Health Risk Conflicting classifications of pathogenicity Hereditary cancer, EGFR-related lung cancer
RS773597432 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS773598203 DNM2 Health Risk Pathogenic Charcot-Marie-Tooth disease dominant intermediate B, Centronuclear myopathy
RS773598642 CABP4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773598775 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS773598909 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS773599043 ABCA4 Health Risk Pathogenic —
RS773599095 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS773599467 MPZL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773599958 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773600127 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773600190 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS773600818 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS773601432 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS773601711 ALDOA Health Risk Pathogenic HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
RS773601814 AAAS Health Risk Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS773602107 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS773602193 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773602319 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS773603581 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS773604010 ABCC6 Health Risk Pathogenic —
RS773605767 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS773606401 PAX6 Health Risk Pathogenic PAX6-related disorder, PAX6-related disorder
RS773607816 HSCB Health Risk Pathogenic Anemia, sideroblastic
RS773607884 TRIM36 Health Risk Pathogenic Anencephaly, Anencephaly
RS773608978 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773609461 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease
RS773609522 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
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