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
RS1251938412 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1251941984 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1251968708 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1251996684 STAG3 Health Risk Pathogenic Spermatogenic failure 61, Spermatogenic failure 61
RS1252006527 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS1252017658 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS1252019134 GTPBP2 Health Risk Pathogenic/Likely pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS1252019616 AMHR2 Health Risk Pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS1252030610 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS1252045461 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1252051440 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1252051752 INS Health Risk Uncertain significance/Uncertain risk allele Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS1252078081 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS1252079324 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
RS1252091439 TRIP12 Health Risk Pathogenic —
RS1252093159 SKIC3 Health Risk Likely pathogenic —
RS1252109762 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1252148225 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1252177878 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS1252185897 GNAL Health Risk Pathogenic Dystonia 25, Dystonic disorder
RS1252195949 KCNV2 Health Risk Pathogenic —
RS1252203605 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1252223404 COMP Health Risk Likely pathogenic —
RS1252244505 EIF2AK4 Health Risk Pathogenic —
RS1252259548 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS1252272917 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1252279085 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1252295632 MMUT Health Risk Pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS1252307867 BCL11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1252315133 SMARCA2 Health Risk Pathogenic —
RS1252318649 CHKB Health Risk Likely pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS1252318929 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1252348200 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1252390180 ALPL Health Risk Likely pathogenic —
RS1252415299 DYSF Health Risk Pathogenic/Likely pathogenic Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1
RS1252426323 DSG2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS1252447458 SOX11 Health Risk Pathogenic Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS1252460131 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-related disorder, Cataract 41
RS1252460597 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1252463400 IQSEC2 Health Risk Pathogenic —
RS1252482376 MARK2 Health Risk Likely pathogenic Autism spectrum disorder, Intellectual disability
RS1252496774 CHCHD10 Health Risk Conflicting classifications of pathogenicity Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
RS1252498034 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1252510761 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1252513246 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1252544416 TBX1 Health Risk Likely pathogenic Velocardiofacial syndrome, DiGeorge syndrome
RS1252562045 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Inborn genetic diseases
RS1252562083 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS1252563449 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1252577998 ASNS Health Risk Conflicting classifications of pathogenicity —
RS1252584025 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1252605804 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS1252609453 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1252609685 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1252610121 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1252623454 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Renal tubular acidosis
RS1252623910 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS1252629169 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1252639614 NR2E3 Health Risk Pathogenic —
RS1252674239 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1252682157 FRAS1 Health Risk Likely pathogenic —
RS1252684619 MPDZ Health Risk Likely pathogenic —
RS1252685523 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS1252692081 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1252704757 RXYLT1 Health Risk Pathogenic —
RS1252719064 MERTK Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1252720524 LDLRAP1 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1252723064 ABCC6 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS1252726486 WDR11 Health Risk Pathogenic Microcephaly, Intellectual developmental disorder
RS1252730791 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease
RS1252769722 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1252780106 KIF14 Health Risk Pathogenic —
RS1252798981 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Gastrointestinal stromal tumor
RS1252813991 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1252815484 PARK7 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS1252818613 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1252822973 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1252867357 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1252871654 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1252878067 DNAL1 Health Risk Pathogenic Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16
RS1252879915 ACO2 Health Risk Pathogenic —
RS1252905257 DMD Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dystrophin deficiency
RS1252906835 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1252909450 GTPBP3 Health Risk Pathogenic —
RS1252928330 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked Alport syndrome
RS1252941339 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1252952323 COL7A1 Health Risk Pathogenic —
RS1252952514 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1252959923 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1252960661 HCFC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria
RS1252973555 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1252979934 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1253009659 ABCC6 Health Risk Pathogenic —
RS1253026669 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1253030003 OTOG Health Risk Pathogenic/Likely pathogenic —
RS1253033456 NBAS Health Risk Likely pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS1253035928 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS12530380 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS1253038033 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hemochromatosis type 3
RS1253057814 GNE Health Risk Likely pathogenic —
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