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
RS145636342 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS145637617 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS145638222 CHRM3 Health Risk Conflicting classifications of pathogenicity Prune belly syndrome, Prune belly syndrome
RS1456382766 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS145638445 CYP2U1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 56, Spastic paraplegia
RS145638628 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS145639028 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Optic atrophy
RS145639192 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, FAT4-related disorder
RS145639662 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS1456405256 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS145641024 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS145641272 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Tooth agenesis
RS145641293 DNAJC17 Health Risk Conflicting classifications of pathogenicity —
RS145641295 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS1456418703 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS145641996 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, MTHFR-related disorder
RS145643112 NPHP3 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis
RS1456431690 TCTN1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS145643238 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Intellectual disability
RS145644205 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1456450494 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS145645536 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS145645602 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS145645790 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1456458087 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate D
RS145646425 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1456469605 AARS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N
RS1456471745 KIF1C Health Risk Pathogenic/Likely pathogenic Spastic ataxia 2, Spastic ataxia 2
RS145648013 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS145649029 KRT16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KRT16-related disorder
RS145649088 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS145649423 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Neuronopathy
RS145649774 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1456500627 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS145650252 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS145650440 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS145650484 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder
RS1456509027 FLCN Health Risk Pathogenic —
RS1456509049 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1456510041 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS145651161 PRKD1 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Premature ovarian failure
RS145651189 LEPR Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Early onset severe obesity
RS1456513786 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1456514392 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS145651593 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS145651640 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1456528242 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1456533664 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS145653668 RTN2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 12, Spastic paraplegia
RS145654111 SLC25A19 Health Risk Conflicting classifications of pathogenicity —
RS145654496 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, PC-related disorder
RS1456547984 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS145654854 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1456555803 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1456557102 VPS13C Health Risk Pathogenic —
RS1456557225 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS145655926 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1456560062 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS145657148 FREM2 Health Risk Conflicting classifications of pathogenicity FREM2-related disorder, FREM2-related disorder
RS145657341 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS145657678 TUBGCP2 Health Risk Conflicting classifications of pathogenicity —
RS1456579860 GBE1 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease
RS145658455 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS145658858 TREM2 Health Risk Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS1456594953 NDE1 Health Risk Pathogenic Lissencephaly 4, Lissencephaly 4
RS1456597696 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1456597732 LOXHD1 Health Risk Likely pathogenic —
RS1456598112 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1456599218 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1456606052 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145661075 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1456612268 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS145661597 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS145661815 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS145662083 TMEM132E Health Risk Conflicting classifications of pathogenicity —
RS145662304 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS145662569 UCP2 Health Risk Conflicting classifications of pathogenicity UCP2-related disorder, UCP2-related disorder
RS145662732 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN1A-related disorder
RS145665129 RPGRIP1L Health Risk Pathogenic COACH syndrome 3, Joubert syndrome 7
RS145665176 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS145665265 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS145665442 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS145665736 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145666157 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS145666727 METTL13 Health Risk risk factor Deafness, autosomal recessive 26
RS145666943 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS145667735 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS145668112 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, LEPR-related disorder
RS145668206 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS145668224 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS145669504 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, Hemoglobin E
RS145669576 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS145669719 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1456702147 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS145670503 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
RS145670786 SH3TC2 Health Risk Pathogenic/Likely pathogenic Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 4
RS145670933 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS145671265 PTPRN2 Health Risk Conflicting classifications of pathogenicity —
RS145671340 ADAMTS7 Health Risk Conflicting classifications of pathogenicity —
RS1456714047 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome and related disorders
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