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
RS1369485535 PPP2R1A Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS1369494837 TBCD Health Risk Pathogenic —
RS1369501286 DSCAM Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1369528141 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS1369533953 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1369538932 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1369547753 MYO5B Health Risk Pathogenic DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS
RS1369565068 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, Inborn genetic diseases
RS1369567672 SUCLG1 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS1369586774 IFT172 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1369594791 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1369594860 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1369618463 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS1369632373 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS1369648014 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1369665958 EXTL3 Health Risk Likely pathogenic Immunoskeletal dysplasia with neurodevelopmental abnormalities, Immunoskeletal dysplasia with neurodevelopmental abnormalities
RS1369666889 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS1369674746 KCNV2 Health Risk Likely pathogenic —
RS1369685302 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1369694963 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS1369700443 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1369701108 MARK2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1369702932 TOPORS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1369704445 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1369717076 LZTR1 Health Risk Pathogenic Schwannomatosis, Schwannomatosis
RS1369724342 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia, Methylmalonic acidemia
RS1369739056 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS1369739730 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1369744426 PPP2R1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1369766718 NHLRC1 Health Risk Likely pathogenic —
RS1369768287 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1369781438 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS1369786965 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS1369791205 KIF1A Health Risk Likely pathogenic —
RS1369791519 SCNN1A Health Risk Likely pathogenic Pseudohypoaldosteronism, type IB1
RS1369800014 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1369814055 PRG4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1369821061 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Inborn genetic diseases
RS1369825523 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1369841345 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS1369869782 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1369878554 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS1369882657 RTTN Health Risk Pathogenic —
RS1369884955 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1369905878 VPS13A Health Risk Pathogenic —
RS1369919728 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS1369932572 RECQL Health Risk Conflicting classifications of pathogenicity —
RS1369933918 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1369945414 CUX1 Health Risk Pathogenic —
RS1369946782 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1369949906 TRPM4 Health Risk Pathogenic/Likely pathogenic Erythrokeratodermia variabilis et progressiva 6, Progressive familial heart block type IB
RS1369953471 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1369977043 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1369980189 COLQ Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1369994093 LCAT Health Risk Conflicting classifications of pathogenicity LCAT deficiency, Norum disease
RS1370011538 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A
RS1370020365 SDHD Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Cowden syndrome 3
RS1370021869 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1370033409 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1370043372 GFM2 Health Risk Likely pathogenic GFM2-related disorder, GFM2-related disorder
RS1370053894 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1370055698 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1370071343 EMILIN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1370073589 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1370093761 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1370120380 SLC12A1 Health Risk Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS1370167869 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1370204743 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1370206753 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1370216607 ACAD9 Health Risk Likely pathogenic —
RS1370217982 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1370223073 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS1370240821 MYMX Health Risk Pathogenic Carey-Fineman-Ziter syndrome 2, Carey-Fineman-Ziter syndrome 2
RS1370252127 FBXO7 Health Risk Pathogenic/Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1370270518 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1370290520 SCN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Seizures
RS1370319468 CTSC Health Risk Conflicting classifications of pathogenicity Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS1370349057 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1370356700 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1370370740 CLCN2 Health Risk Pathogenic —
RS1370374325 IFT74 Health Risk Pathogenic —
RS1370407423 COL4A4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1370417967 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1370442137 GLE1 Health Risk Pathogenic —
RS1370457169 VARS2 Health Risk Likely pathogenic —
RS1370476857 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Nephronophthisis 18
RS1370477353 GHR Health Risk Pathogenic —
RS1370483870 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1370486222 POLA1 Health Risk Conflicting classifications of pathogenicity —
RS1370489117 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1370490922 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1370493887 CYP17A1 Health Risk Likely pathogenic —
RS1370505940 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1370507095 ECEL1 Health Risk Pathogenic/Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1370517493 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1370523337 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1370524851 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1370527260 LGI1 Health Risk Likely pathogenic Seizure, Seizure
RS1370544496 FLG Health Risk Pathogenic —
RS1370553261 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
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