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
RS141844800 ANK1 Health Risk Pathogenic ANK1-related disorder, ANK1-related disorder
RS141845482 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, UV-sensitive syndrome 2
RS1418465028 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS141847284 CFAP44 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1418474023 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS141847758 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS141847881 FKBP10 Health Risk Pathogenic Bruck syndrome, Bruck syndrome
RS141848292 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS141850403 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS141850568 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141851670 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA1-related disorder
RS141852437 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 59, Retinitis pigmentosa
RS141852778 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS141852866 CFH Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Basal laminar drusen
RS1418531169 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS141853578 CFI Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS1418539002 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1418539550 CHRNG Health Risk Likely pathogenic —
RS141854054 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS1418547527 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS141854925 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 35
RS1418553655 TCIRG1 Health Risk Pathogenic —
RS141855494 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS141856116 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy
RS141856197 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS1418564113 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS141856439 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS141857911 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS141858284 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS141858334 FXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1418585908 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS1418586166 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS141859334 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS1418593569 DOCK8 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS141859450 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Gastric cancer
RS141859946 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS141861208 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS141861479 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS1418620415 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis, ABCB11-related disorder
RS141862495 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS141862527 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency
RS141862602 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease
RS141862996 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1418641045 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1418644001 SMG9 Health Risk Pathogenic Heart and brain malformation syndrome, Heart and brain malformation syndrome
RS1418648944 GLI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1418650883 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS141865220 GTPBP3 Health Risk Conflicting classifications of pathogenicity —
RS141866144 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Donnai-Barrow syndrome
RS141866304 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Inborn genetic diseases
RS141867330 KIF7 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia, Al-Gazali type
RS1418675250 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1418676444 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1418677221 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS141867978 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS141868117 ABCD4 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblJ
RS141868759 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS141868829 FBN1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS1418692998 TMPRSS3 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS141869423 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1418694748 TNK2 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1418709183 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS141871028 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS141871482 HSPB8 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases
RS141872864 EIF2B4 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS1418729056 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS141873613 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS141873745 DSC2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS141873759 PAX6 Health Risk Pathogenic Aniridia 1, PAX6-related disorder
RS141873943 DNAL1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16
RS141874052 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder
RS141875337 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS141877007 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1418778734 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS141878699 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS1418798663 SEMA6B Health Risk Likely pathogenic Epilepsy, progressive myoclonic
RS1418800829 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS141880154 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS141880939 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS1418811080 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS141881594 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1418818463 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141882639 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS141882853 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS141883346 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS141883531 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS141883764 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1418844422 FAN1 Health Risk Pathogenic —
RS141884644 MMP9 Health Risk Conflicting classifications of pathogenicity —
RS141885438 C6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1418861315 CRPPA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS141886345 NPHS1 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, NPHS1-related disorder
RS141886790 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS1418873962 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS141887693 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1418885000 L1CAM Health Risk Pathogenic Spastic paraplegia, MASA syndrome
RS141888548 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS141888564 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS141889164 NGF Health Risk Conflicting classifications of pathogenicity Congenital sensory neuropathy with selective loss of small myelinated fibers, Inborn genetic diseases
RS141889207 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
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