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
RS775158252 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS775158434 WFS1 Health Risk Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS775159300 LMNA Health Risk Uncertain significance/Uncertain risk allele Charcot-Marie-Tooth disease type 2, Hutchinson-Gilford syndrome
RS775159311 ENAM Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta, Inborn genetic diseases
RS775160037 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS775160119 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS775162839 UGDH Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS775163147 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS775166339 PI4KA Health Risk Pathogenic Polymicrogyria, perisylvian
RS775166854 CABP4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone-rod synaptic disorder
RS775166971 FGFR1 Health Risk Conflicting classifications of pathogenicity Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS775167683 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS775167943 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS775168204 COL18A1 Health Risk Pathogenic Knobloch syndrome, COL18A1-related disorder
RS775168365 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS775168991 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS775169295 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS775169308 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS775169386 IFT74 Health Risk Pathogenic —
RS775170271 CDK5RAP2 Health Risk Pathogenic —
RS775170464 ABCA4 Health Risk Pathogenic —
RS775170915 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS775171520 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS775172479 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS77517267 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS775172877 MYO18B Health Risk Pathogenic —
RS775172922 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS775172938 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS775173963 SCO2 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS775175165 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS775176173 CHM Health Risk Pathogenic —
RS775176191 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS775177930 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinal dystrophy
RS775180524 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS775181391 DSP Health Risk Conflicting classifications of pathogenicity Cardiac arrest, Cardiovascular phenotype
RS775181549 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775181779 WDR19 Health Risk Pathogenic/Likely pathogenic Cone dystrophy, Senior-Loken syndrome 8
RS775181940 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS775183383 RFX5 Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS775183925 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS775185371 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS775185796 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS775186117 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS77518676 ZNF407 Health Risk Conflicting classifications of pathogenicity ZNF407-related disorder, ZNF407-related disorder
RS775189167 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS775189201 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS775189420 KIDINS220 Health Risk Conflicting classifications of pathogenicity Early onset severe obesity, Early onset severe obesity
RS77518956 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS775190610 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS775191883 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS775192689 RYR1 Health Risk Likely pathogenic —
RS775193384 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS775194825 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS775195256 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS775196555 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS775196743 COL17A1 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS775196937 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS775197136 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS775198036 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Seckel syndrome 1
RS775198482 XYLT2 Health Risk Pathogenic —
RS775198775 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS775199760 SCN11A Health Risk Pathogenic/Likely pathogenic Familial episodic pain syndrome with predominantly lower limb involvement, Familial episodic pain syndrome with predominantly lower limb involvement
RS775200333 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS775200499 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS775201083 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS775201668 ALDH18A1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Autosomal recessive complex spastic paraplegia type 9B
RS775202094 TMPRSS15 Health Risk Pathogenic —
RS775202656 CDH23 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS77520296 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775203527 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS775203541 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS775204282 APRT Health Risk Pathogenic —
RS775204908 KCNJ11 Health Risk Pathogenic/Likely pathogenic KCNJ11-related disorder, Familial hyperinsulinism
RS775205537 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS775206410 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS775206528 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS775206746 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS775207779 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS775208053 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS775208348 KRT74 Health Risk Conflicting classifications of pathogenicity —
RS775208392 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS775209602 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS775211111 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS775211390 GLDC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS775212002 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS775212974 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775213170 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS775214722 SCN1A Health Risk Pathogenic —
RS775215301 KY Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775216604 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS775216682 WFS1 Health Risk Uncertain significance/Uncertain risk allele Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS775217052 CAPN3 Health Risk Pathogenic —
RS775217258 SH3PXD2B Health Risk Pathogenic Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS775217381 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS775217472 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS775217501 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS775218067 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS775219690 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS775221217 NPHP4 Health Risk Pathogenic Nephronophthisis, Senior-Loken syndrome 4
RS775221712 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
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