SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS963639278 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS963653732 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS963668412 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS963715928 DSC2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS9637170 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS963717773 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS963822803 WAC Health Risk Pathogenic —
RS963894786 RAB7A Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B
RS963945421 TERB1 Health Risk Pathogenic Spermatogenic failure 60, Spermatogenic failure 60
RS963964094 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS964020576 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS964029262 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS964044070 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Familial cancer of breast
RS964069381 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS964085975 HBB Health Risk Conflicting classifications of pathogenicity —
RS964158614 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS964159537 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS964170650 AQP2 Health Risk Conflicting classifications of pathogenicity Nephrogenic diabetes insipidus, Diabetes insipidus
RS964191879 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS964195568 PLD3;PRX Health Risk Pathogenic/Likely pathogenic Progressive peripheral neuropathy, Progressive gait ataxia
RS964247601 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS964263107 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS964263812 PHKB Health Risk Pathogenic/Likely pathogenic See cases, Glycogen storage disease IXb
RS964265383 RAC1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 48
RS964315149 TMC1 Health Risk Pathogenic —
RS964335184 MYMK Health Risk Pathogenic/Likely pathogenic Congenital nonprogressive myopathy with Moebius and Robin sequences, See cases
RS964356368 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS964393137 NR5A1 Health Risk Likely pathogenic Male infertility, Male infertility
RS964396023 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS964459864 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS964526144 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS964530890 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS964532159 FBXL4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases
RS964576902 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Microcytic anemia
RS964653085 LAMA3 Health Risk Pathogenic —
RS964670864 UROD Health Risk Likely pathogenic —
RS964673995 SDCCAG8 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS964696175 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS964711006 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS964724051 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS964738575 ADAMTSL4 Health Risk Pathogenic —
RS964851138 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS964883731 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS964928101 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS964976261 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS964985310 EPHB4 Health Risk Pathogenic/Likely pathogenic —
RS965032792 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS965061234 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Radioulnar synostosis
RS965079938 POLR3B Health Risk Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS965119099 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS965133345 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS965134950 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS965226394 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS965228819 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS965291972 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS965316043 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS965319455 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS965354059 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS965420348 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS965462099 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS965476894 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS965484445 REEP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS965484858 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS965519704 SMARCC2 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS965522059 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS965570472 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS965610533 HSD17B10 Health Risk Conflicting classifications of pathogenicity HSD17B10-related disorder, HSD17B10-related disorder
RS965659126 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS965662260 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS9657022 CYP11B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia, Glucocorticoid-remediable aldosteronism
RS965707125 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS965707319 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS965713946 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS965718917 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS965734036 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 49
RS965741395 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS965753331 CDH2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia, familial
RS965885404 IFNAR1 Health Risk Likely pathogenic Immunodeficiency 106, susceptibility to viral infections
RS965898118 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS965900698 FOXRED1 Health Risk Pathogenic —
RS965901086 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS965903439 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS965912564 DNAJC30 Health Risk Likely pathogenic Leber hereditary optic neuropathy, autosomal recessive
RS965937353 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS965942065 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS965952835 LIAS Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS965965834 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS966102111 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS966108691 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS966111552 BIVM-ERCC5;ERCC5 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 3, Cerebrooculofacioskeletal syndrome 3
RS966143902 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS966145309 NKX2-5 Health Risk Conflicting classifications of pathogenicity Ventricular septal defect 3, Atrial septal defect 7
RS966152147 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS966162330 TSPEAR Health Risk Pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS966212736 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS966234208 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS966267709 ASAH1 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Farber lipogranulomatosis
RS9662691 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS966338815 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS966360777 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
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