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
RS139164988 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS1391654044 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS139165558 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS139165669 NLRP12 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial cold autoinflammatory syndrome 2
RS139165727 CCBE1 Health Risk Conflicting classifications of pathogenicity See cases, Hennekam lymphangiectasia-lymphedema syndrome 1
RS139165943 NTHL1 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS139166382 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS139167960 DRC4 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 33, GAS8-related disorder
RS139169078 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
RS139169188 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS139170018 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS139170496 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1391706310 CD55 Health Risk Pathogenic —
RS1391709910 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS139171143 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS1391712320 HPDL Health Risk Pathogenic Spastic paraplegia 83, autosomal recessive
RS1391715924 CA5A Health Risk Pathogenic Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
RS1391729028 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS1391730624 CABP2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 93, Autosomal recessive nonsyndromic hearing loss 93
RS139173161 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS1391733497 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS139173669 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS139174054 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS139174622 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS1391748504 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS139175351 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1D
RS1391758713 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1391761076 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1391764195 SETX Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS139176904 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1391769255 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS139176958 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH9-related disorder
RS139177541 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS139177846 PRPH2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Patterned macular dystrophy 1
RS139178017 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS139178030 CPA6 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS139178605 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS139178679 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139178900 PSAP Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency
RS1391790248 C1S Health Risk Pathogenic/Likely pathogenic Complement component C1s deficiency, Ehlers-Danlos syndrome
RS1391791847 PTPN11 Health Risk Pathogenic/Likely pathogenic RASopathy, RASopathy
RS139179263 LHFPL5 Health Risk Conflicting classifications of pathogenicity LHFPL5-related disorder, Inborn genetic diseases
RS139179843 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS139179950 TRAPPC9 Health Risk Pathogenic —
RS139180192 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1391804672 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS139180845 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS1391811597 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1391813384 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139181534 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome 1
RS139182500 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1391838663 NUP107 Health Risk Likely pathogenic NUP107-related disorder, NUP107-related disorder
RS139183911 PPP2R5D Health Risk Conflicting classifications of pathogenicity Hogue-Janssens syndrome 1, PPP2R5D-related disorder
RS139184008 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS139185738 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS1391857942 WDR45B Health Risk Likely pathogenic Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
RS139185976 PRPH2 Health Risk Conflicting classifications of pathogenicity Macular dystrophy, Patterned macular dystrophy 1
RS1391863896 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS139187222 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1391874523 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1391874809 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS139187840 SCAPER Health Risk Conflicting classifications of pathogenicity SCAPER-related disorder, Retinal dystrophy
RS139188247 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS1391883361 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, classic hepatic
RS139188499 CLCN2 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS139188627 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS139188673 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS139188695 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS139189178 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1391892163 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1391892586 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1391895910 TMC1 Health Risk Conflicting classifications of pathogenicity —
RS1391900515 AP3B2 Health Risk Pathogenic —
RS139190349 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139190636 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Inborn genetic diseases
RS1391910861 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1391913873 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS139191615 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder
RS1391918705 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS139192015 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS139192292 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS139192433 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS139192633 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1391928253 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS139193948 WHRN Health Risk Conflicting classifications of pathogenicity WHRN-related disorder, WHRN-related disorder
RS139194093 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS139194636 WARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139194813 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS139194909 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Branchiootic syndrome 1
RS1391954605 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1391956558 LRTOMT Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS139196838 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS139196998 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 2, von Willebrand disease type 1
RS139197513 EFHC1 Health Risk Conflicting classifications of pathogenicity EFHC1-related disorder, Myoclonic epilepsy
RS139197516 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS1391978939 DRG1 Health Risk Likely pathogenic Flexion contracture, Flexion contracture
RS139197937 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1391979900 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS139198405 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139199018 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
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