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
RS199643166 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS199643269 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199643344 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS199643407 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS199643502 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS199643655 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Cardiovascular phenotype
RS199643821 ERCC2 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum
RS199643834 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS199644027 UMPS Health Risk Conflicting classifications of pathogenicity Oroticaciduria, Hereditary orotic aciduria
RS199644078 PDX1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Maturity-onset diabetes of the young type 4
RS199644216 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS199644237 MAPT Health Risk Conflicting classifications of pathogenicity MAPT-related disorder, MAPT-related disorder
RS199644430 IMPG1 Health Risk Likely pathogenic —
RS199644680 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Inborn genetic diseases
RS199644840 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS199645034 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS199645071 EPOR Health Risk Conflicting classifications of pathogenicity Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS199645176 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS199645252 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS199645258 DGUOK Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder
RS199645514 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 39
RS199645527 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS199645805 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, EZH2-related disorder
RS199646089 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199646095 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS199646180 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Familial medullary thyroid carcinoma
RS199646208 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS199646884 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS199646963 NLRC4 Health Risk Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS199647157 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS199647257 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS199647542 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS199648202 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS199648498 OSBPL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199648534 DIS3L2 Health Risk Pathogenic/Likely pathogenic Perlman syndrome, DIS3L2-related disorder
RS199648606 ERCC5 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS199648809 KPTN Health Risk Conflicting classifications of pathogenicity Macrocephaly-developmental delay syndrome, Inborn genetic diseases
RS199648816 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Congenital myopathy 20
RS199648817 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS199648830 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, Usher syndrome type 1G
RS199648872 NDUFA10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS199648976 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, PEX7-related disorder
RS199649417 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
RS199649536 TTC8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Bardet-Biedl syndrome
RS199649563 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS199649763 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199649780 ABCB11 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS199650068 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS199650198 OTX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Inborn genetic diseases
RS199650819 TRMU Health Risk Conflicting classifications of pathogenicity —
RS199650847 EP300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, EP300-related disorder
RS199651040 ERCC5 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS199651054 CLDN16 Health Risk Conflicting classifications of pathogenicity Primary hypomagnesemia, Primary hypomagnesemia
RS199651516 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS199651558 A2ML1 Health Risk Conflicting classifications of pathogenicity Nonsyndromic otitis media, Otitis media
RS199652160 CLTCL1 Health Risk Conflicting classifications of pathogenicity —
RS199652831 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS199652942 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Inborn genetic diseases
RS199652954 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS199653123 COL9A3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS199653140 NYNRIN Health Risk Conflicting classifications of pathogenicity —
RS199653162 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS199653503 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS199653554 ESCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Roberts-SC phocomelia syndrome
RS199653685 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS199653824 YY1AP1 Health Risk Pathogenic Grange syndrome, Grange syndrome
RS199653952 LDHA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS199654252 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS199654257 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS199654385 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1996552 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS199655304 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS199655331 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS199655686 CNGA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Achromatopsia 2
RS199655842 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS199655896 MMUT Health Risk Conflicting classifications of pathogenicity —
RS199655961 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS199655993 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS199656264 TTN Health Risk Conflicting classifications of pathogenicity —
RS199656266 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS199656285 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS199657566 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS199657604 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS199657817 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS199657839 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS199658000 APOC2 Health Risk Conflicting classifications of pathogenicity Familial apolipoprotein C-II deficiency, Cardiovascular phenotype
RS199658095 PRB3 Health Risk Conflicting classifications of pathogenicity —
RS199658221 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS199658345 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1
RS199658397 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS199658508 CHRNB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
RS199658725 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199658960 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199659098 TEX15 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 25, Spermatogenic failure 25
RS199659114 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS199659346 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS199660138 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Thrombophilia
RS199660234 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS199660792 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS199661469 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
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