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
RS200347983 OSGEP Health Risk Likely pathogenic —
RS200348035 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS200348414 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200349528 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS200349591 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS200349671 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1A
RS200350443 MLIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200351280 ETV6 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 5, ETV6-related disorder
RS200351329 LARS1 Health Risk Pathogenic —
RS200351769 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS200352552 FSIP2 Health Risk Conflicting classifications of pathogenicity —
RS200353633 KATNIP Health Risk Conflicting classifications of pathogenicity —
RS200353662 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200354014 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS200354211 SCO2 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS200354336 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16
RS200354645 PDLIM3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
RS200354654 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CC2D1A-related disorder
RS200355030 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS200355149 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS200355367 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200355421 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200355554 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200355614 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS200356271 TBCE Health Risk Pathogenic/Likely pathogenic Autosomal recessive Kenny-Caffey syndrome, Disorder of sexual differentiation
RS200356989 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS200357005 TNXB Health Risk Pathogenic/Likely pathogenic Vesicoureteral reflux 8, Cardiovascular phenotype
RS200357590 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS200357942 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS200358025 CCM2 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS200358260 MYO5B Health Risk Pathogenic —
RS200358748 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS200358974 EPB41L1 Health Risk Conflicting classifications of pathogenicity —
RS200359082 TTN Health Risk Conflicting classifications of pathogenicity —
RS200359303 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS200359745 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS200359838 C6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200360214 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS200360336 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS200360684 FLG Health Risk Conflicting classifications of pathogenicity —
RS200360961 SLC40A1 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 4, Hemochromatosis type 4
RS200360968 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS200361387 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Colorectal cancer
RS200361523 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200361738 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS200362242 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS200362582 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS200362946 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS200363064 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS200363654 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS200363872 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200363918 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS200363939 GRIP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 3
RS200364043 IFT56 Health Risk Conflicting classifications of pathogenicity —
RS200364529 SPRY4 Health Risk Conflicting classifications of pathogenicity SPRY4-related disorder, SPRY4-related disorder
RS200364530 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS200364660 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS200364668 SLCO2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200364883 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS200365542 C7 Health Risk Pathogenic/Likely pathogenic C7-related disorder, C7-related disorder
RS200365734 NBAS Health Risk Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS200365972 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200366112 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS200366828 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS200366836 TPP2 Health Risk Conflicting classifications of pathogenicity Evans syndrome, immunodeficiency
RS200367054 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS200367055 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS200367148 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS200367247 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS200367429 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS200367454 CACNB2 Health Risk Conflicting classifications of pathogenicity Paroxysmal familial ventricular fibrillation, Cardiovascular phenotype
RS200367524 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D
RS200367787 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Long QT syndrome
RS200367807 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS200367963 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200368187 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS200368309 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS200368564 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS200368807 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS200368819 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS200369087 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS200369596 LRP2 Health Risk Conflicting classifications of pathogenicity —
RS200370001 ATP2C2 Health Risk Conflicting classifications of pathogenicity —
RS200370282 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS200370335 UGT1A1 Health Risk Likely pathogenic Crigler-Najjar syndrome, type II
RS200370596 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS200370925 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS200370953 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS200371339 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS200371401 MYH7B Health Risk Conflicting classifications of pathogenicity —
RS200371638 FCSK Health Risk Conflicting classifications of pathogenicity —
RS200371805 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS200372028 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS200372116 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS200372325 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS200372420 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS200372494 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS200372976 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, FBXL4-related disorder
RS200373233 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Thymoma
RS200373411 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
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