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
RS1395524891 HSPG2 Health Risk Pathogenic —
RS1395525519 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS139552714 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS1395527274 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Autosomal recessive osteopetrosis 4
RS139552940 COL6A2 Health Risk Conflicting classifications of pathogenicity Myopathy, Bethlem myopathy 1A
RS139552984 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, Vesicoureteral reflux 2
RS139553131 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS139553755 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139555085 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1395551564 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS1395554751 GORAB Health Risk Pathogenic —
RS139555567 LONP1 Health Risk Conflicting classifications of pathogenicity LONP1-related disorder, LONP1-related disorder
RS1395558232 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1395561739 EXOSC3 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1B
RS139557480 RNF43 Health Risk Conflicting classifications of pathogenicity Hereditary cancer, RNF43-related disorder
RS1395575712 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS139557851 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS139558261 NYX Health Risk Conflicting classifications of pathogenicity NYX-related disorder, NYX-related disorder
RS139558481 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS139558513 STIM1 Health Risk Conflicting classifications of pathogenicity STIM1-related disorder, Myopathy
RS1395588065 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1395589626 ADGRL1 Health Risk Likely pathogenic Intellectual disability, Global developmental delay
RS139559367 ACTC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS139559495 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS1395597191 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS1395597644 COL6A3 Health Risk Likely pathogenic Abnormality of the musculature, Bethlem myopathy 1A
RS139559830 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS139559937 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS139560004 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS139560074 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1395608434 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS139561812 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, Glycogen storage disease type X
RS1395620536 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS139562274 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1395631005 CAMTA1 Health Risk Pathogenic —
RS139563689 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Microcytic anemia
RS139564196 CLCNKA Health Risk Conflicting classifications of pathogenicity Bartter disease type 4B, Bartter disease type 4B
RS1395644015 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS139564795 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1395648272 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Congenital myopathy 2b
RS1395648308 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS139564938 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1395650269 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS139565972 FGF8 Health Risk Likely pathogenic Holoprosencephaly sequence, Holoprosencephaly sequence
RS139566676 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS139568056 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS139568495 LAMB1 Health Risk Conflicting classifications of pathogenicity —
RS139569694 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1395700335 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS139570101 TEKT3 Health Risk Pathogenic Spermatogenic failure 81, Spermatogenic failure 81
RS139570786 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS139570869 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS139571947 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS139571975 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS139572764 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS139573207 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS139573311 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1395737285 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS139574075 COLQ Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome
RS1395754016 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS139576148 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, IL10RA-related disorder
RS1395763356 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1395765132 COL7A1 Health Risk Likely pathogenic —
RS1395766003 IFT81 Health Risk Pathogenic —
RS139576982 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS1395775047 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS139579036 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS139579057 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14
RS139579665 ANLN Health Risk Conflicting classifications of pathogenicity —
RS139579796 VARS1 Health Risk Conflicting classifications of pathogenicity —
RS139579816 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS139580010 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS139580489 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139580620 TNC Health Risk Conflicting classifications of pathogenicity —
RS139580877 SPEF2 Health Risk Conflicting classifications of pathogenicity —
RS139581346 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS139581412 CHD5 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, CHD5-related disorder
RS139581644 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS139582106 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS139582148 HSD17B3 Health Risk Conflicting classifications of pathogenicity Testosterone 17-beta-dehydrogenase deficiency, HSD17B3-related disorder
RS139582437 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS139583037 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS1395832064 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Inborn genetic diseases
RS139583787 UCHL1 Health Risk Conflicting classifications of pathogenicity Parkinson disease 5, autosomal dominant
RS139584756 STEAP3 Health Risk Conflicting classifications of pathogenicity —
RS139585796 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Inborn genetic diseases
RS139585872 LIPA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Wolman disease
RS139586720 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS139588377 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1395885868 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS139589527 MATR3 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
RS139590550 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS139590686 POLG Health Risk Likely pathogenic POLG-related disorder, Progressive sclerosing poliodystrophy
RS139591065 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS139591082 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS139591190 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS139591272 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS1395913655 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS1395918076 KDM4B Health Risk Conflicting classifications of pathogenicity Syndromic global developmental delay, Intellectual developmental disorder
RS139591993 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
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