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
RS1403350105 OPHN1 Health Risk Conflicting classifications of pathogenicity —
RS140335265 ARHGAP21 Health Risk Conflicting classifications of pathogenicity —
RS140336749 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1403371346 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS140337204 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1403376991 PTPRQ Health Risk Likely pathogenic —
RS140338178 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS1403385518 SIX3 Health Risk Pathogenic/Likely pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS140340426 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Zellweger spectrum disorders
RS140340673 TJP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140340763 DMXL1 Health Risk Conflicting classifications of pathogenicity DMXL1-related disorder, DMXL1-related disorder
RS140341571 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia
RS140341636 ATP6V1B1 Health Risk Pathogenic —
RS140341680 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS140341924 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
RS140342004 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1403421167 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1403421269 SCO2 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS140342271 PPL Health Risk Conflicting classifications of pathogenicity —
RS1403423766 BUB1B Health Risk Pathogenic/Likely pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1403427403 NEK8 Health Risk Likely pathogenic NEK8-related disorder, NEK8-related disorder
RS140342772 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS140342925 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS140343089 GPC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
RS1403441857 TUBB2B Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS140344645 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS140344685 DRC4 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 33, Familial cancer of breast
RS140344858 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS140345440 HERC2 Health Risk Conflicting classifications of pathogenicity HERC2-related disorder, HERC2-related disorder
RS1403456625 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS140345677 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS140346169 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140346737 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS1403470484 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS140347078 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS140347235 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS140347630 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency
RS1403477903 ZMIZ1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1403479516 SLC39A5 Health Risk Conflicting classifications of pathogenicity Myopia 24, autosomal dominant
RS1403480959 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS140348243 SCN4B Health Risk Conflicting classifications of pathogenicity SUDDEN INFANT DEATH SYNDROME, Long QT syndrome 10
RS140348260 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1403483213 SEC63 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic liver disease, SEC63-related disorder
RS1403485272 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1403489512 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS140349036 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS140349444 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS140349792 STK33 Health Risk Conflicting classifications of pathogenicity —
RS1403500889 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS140350435 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140350441 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS1403508334 FGA Health Risk Likely pathogenic FIBRINOGEN DETROIT 1, FIBRINOGEN DETROIT 1
RS140351189 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1403515889 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Fetal akinesia
RS140352180 GPNMB Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS140352254 PMFBP1 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 31, Spermatogenic failure 31
RS140352947 KRT5 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Inborn genetic diseases
RS1403529555 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS140353201 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS140353326 FREM2 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, FREM2-related disorder
RS140353351 SLCO1B3;SLCO1B3-SLCO1B7 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, Rotor syndrome
RS140354126 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS1403542725 RNASEH2A Health Risk Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS140354422 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Thrombocytopenia
RS140354725 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1403548687 CDT1 Health Risk Pathogenic —
RS140355580 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS140355742 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Greenberg dysplasia
RS140356252 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS140356355 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS140357643 ETV6 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 5, ETV6-related disorder
RS140358876 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1403601001 NBAS Health Risk Likely pathogenic —
RS1403616422 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1403618793 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome
RS140362696 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Stargardt disease 4
RS140363445 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, VACTERL association
RS140363569 SLC12A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hypokalemia-hypomagnesemia
RS140364490 OTOA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder
RS140364622 DISP1 Health Risk Conflicting classifications of pathogenicity —
RS1403648108 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS140365206 VIPAS39 Health Risk Conflicting classifications of pathogenicity VIPAS39-related disorder, VIPAS39-related disorder
RS140365508 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS140365800 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS140365820 TYRP1 Health Risk Pathogenic Oculocutaneous albinism type 3, Albinism
RS1403661741 PDE6C Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS140366226 CCN6 Health Risk Likely pathogenic —
RS140366557 IFT43 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 81, Cranioectodermal dysplasia 3
RS1403667556 PRR12 Health Risk Likely pathogenic Neuroocular syndrome, Neuroocular syndrome
RS1403669200 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS140367157 ARHGAP32 Health Risk Conflicting classifications of pathogenicity —
RS140367473 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS140367649 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1403686641 PTHLH Health Risk Pathogenic —
RS1403691329 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS140370927 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schimke immuno-osseous dysplasia
RS140371232 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 13, Retinitis Pigmentosa
RS140371771 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS140372149 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS140372565 LIMA1 Health Risk association LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8, LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8
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