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
RS749094914 VAC14 Health Risk Conflicting classifications of pathogenicity Striatonigral degeneration, childhood-onset
RS749096548 VPS13D Health Risk Likely pathogenic —
RS749096874 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS749098014 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS749098397 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS749099493 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS749099779 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS749100905 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS749103517 MFF Health Risk Likely pathogenic —
RS749103588 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS749103801 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS749104500 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS749104931 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS749106645 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS749107412 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS749108651 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS749110441 TMPRSS5 Health Risk Conflicting classifications of pathogenicity —
RS749110767 FOXRED1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 19
RS749111054 PTH1R Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
RS749111647 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS749112240 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS749114363 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS749114664 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS749115647 ZNF699 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, DEGCAGS syndrome
RS749116256 ADAMTS17 Health Risk Pathogenic/Likely pathogenic Weill-Marchesani 4 syndrome, recessive
RS749117997 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS749118285 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS749118441 LCT Health Risk Pathogenic/Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS749120592 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749121941 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS749122105 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS749123022 AURKC Health Risk Conflicting classifications of pathogenicity —
RS749123392 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS749124508 ALDH1A2 Health Risk Pathogenic Diaphragmatic hernia 4, with cardiovascular defects
RS749124581 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS749124658 MICU1 Health Risk Pathogenic/Likely pathogenic Proximal myopathy with extrapyramidal signs, Inborn genetic diseases
RS749125197 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS749125278 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749125299 SEC63 Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 2, Polycystic liver disease 2
RS749126116 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749126200 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS749127574 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS749127600 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS749129928 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS749130556 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749130573 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS749131549 KIF14 Health Risk Conflicting classifications of pathogenicity Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS749132753 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS749133312 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS749134354 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS749134845 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS749136456 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Rare genetic deafness
RS749138071 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS749138739 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749138783 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS749139836 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749140168 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS749141162 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS749141299 GATAD2B Health Risk Conflicting classifications of pathogenicity Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS749141857 LSS Health Risk Pathogenic Cataract 44, Cataract 44
RS749142395 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS749142500 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis
RS749144109 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS749145120 CASQ1 Health Risk Conflicting classifications of pathogenicity Myopathy due to calsequestrin and SERCA1 protein overload, Myopathy due to calsequestrin and SERCA1 protein overload
RS749145939 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS749146264 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS749146534 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS749147803 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS749147965 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS749150627 MME Health Risk Pathogenic —
RS749151163 ACAN Health Risk Pathogenic —
RS749151809 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS749153163 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Breast and/or ovarian cancer
RS749154041 TLR4 Health Risk Conflicting classifications of pathogenicity Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS749154513 ACTC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Atrial septal defect 5
RS749154605 LAMB2 Health Risk Pathogenic/Likely pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS749154726 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease
RS749154761 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS749154860 CHD1 Health Risk Conflicting classifications of pathogenicity —
RS749155089 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS749155619 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS749156010 MFRP Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS749156425 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS749156618 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS749156731 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS749157868 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, Inborn genetic diseases
RS749159160 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS749159544 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS749159573 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS749160366 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749160734 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS749161770 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS749162150 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS749162303 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS749162799 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS749162833 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749163361 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS749163517 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Inborn genetic diseases
RS749163856 CFAP251 Health Risk Pathogenic Non-syndromic male infertility due to sperm motility disorder, Male infertility with teratozoospermia due to single gene mutation
RS749165759 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
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