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
RS140812928 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140813121 C8B Health Risk Pathogenic Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS140813163 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1408133351 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS140814031 UGT1A7 Health Risk Conflicting classifications of pathogenicity —
RS140815139 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS140815495 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS140815605 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1408164312 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1408166345 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS140816771 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS1408171481 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, GLB1-related disorder
RS140817351 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140817689 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS140818230 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140818407 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS1408196847 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1408214109 STAR Health Risk Likely pathogenic STAR-related disorder, STAR-related disorder
RS140821819 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS140821928 CRYBG2 Health Risk Conflicting classifications of pathogenicity —
RS1408226614 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1408227928 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1408235770 TTLL5 Health Risk Pathogenic —
RS1408237135 XDH Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS140823801 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS140824612 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS140824939 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS140825318 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS140825395 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS140825421 KDR Health Risk Conflicting classifications of pathogenicity —
RS1408254396 ITPA Health Risk Pathogenic Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy
RS140825693 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS1408257020 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS140825795 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS140825810 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS140825889 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1408259285 FZD4 Health Risk Likely pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS140826989 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1408283351 STAT3 Health Risk Likely pathogenic STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS140828463 PIK3C2A Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS1408290451 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS140829706 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS140830125 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1408319932 SH3TC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS140832239 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS140832430 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS1408325840 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS140833277 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, BRAT1-related disorder
RS140834550 KMT2C Health Risk Conflicting classifications of pathogenicity KMT2C-related disorder, KMT2C-related disorder
RS1408345511 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS140835112 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, TRPM6-related disorder
RS140835376 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS1408355931 P3H2 Health Risk Likely pathogenic Myopia, high
RS140835842 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-related disorder
RS1408362205 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS140836847 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCNT-related disorder
RS140836849 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS1408372648 SP110 Health Risk Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS1408383396 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS140839289 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS1408407724 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS1408412826 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Hematuria
RS140841480 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS140841721 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS140842196 CATSPERB Health Risk Pathogenic Male infertility, Male infertility
RS140842479 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS140842900 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS140842916 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS140843241 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1408435603 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1408438094 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS140844253 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS1408448213 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS140845195 ALDH7A1 Health Risk Pathogenic Ventriculomegaly, Seizure
RS140845661 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYOM1-related disorder
RS140846364 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS140846512 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS1408467437 CPLANE1 Health Risk Pathogenic —
RS1408473510 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS140847485 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS1408490036 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1408497251 SLC3A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cystinuria
RS1408500302 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS140850172 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS1408504352 GAN Health Risk Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS140850823 AIMP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1408519111 ABCD4 Health Risk Likely pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS140852019 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS140852137 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS140852238 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS140852551 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to
RS140852621 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS1408532785 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS140853839 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, See cases
RS140854076 MAGT1 Health Risk Conflicting classifications of pathogenicity X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS140855443 ZFHX3 Health Risk Conflicting classifications of pathogenicity —
RS1408556558 FAN1 Health Risk Pathogenic —
RS140855833 GDI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140855946 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Inborn genetic diseases
RS140856114 C8A Health Risk Pathogenic Type I complement component 8 deficiency, Type I complement component 8 deficiency
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