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
RS55932635 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS559327874 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis of genetic origin, Inborn genetic diseases
RS55932871 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS55933739 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS55933862 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Autoimmune disease
RS55933907 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS559342068 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS55934812 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS559351051 TBCK Health Risk Likely pathogenic —
RS559354455 ZNF335 Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to ZNF335 deficiency, Microcephalic primordial dwarfism due to ZNF335 deficiency
RS559363898 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS559364802 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS559367724 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS559371453 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS559380161 RPIA Health Risk Conflicting classifications of pathogenicity Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
RS55938627 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS559392439 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS55939441 OBSCN Health Risk Conflicting classifications of pathogenicity OBSCN-related disorder, OBSCN-related disorder
RS559395092 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS55939572 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS55939573 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS559396586 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS559396761 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS559401066 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis
RS55940667 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS55940927 GCNT2 Health Risk Conflicting classifications of pathogenicity Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
RS559417477 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS559422558 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder
RS559428418 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS559429215 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS55943100 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS559441081 NSD1 Health Risk Conflicting classifications of pathogenicity NSD1-related disorder, NSD1-related disorder
RS559443040 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS559451610 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS559453268 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS559454746 ADSS1 Health Risk Pathogenic Myopathy, distal
RS55945684 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS559458534 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS559466039 NAXD Health Risk Conflicting classifications of pathogenicity NAD(P)HX dehydratase deficiency, Inborn genetic diseases
RS559467414 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS55947063 CDH23 Health Risk Pathogenic —
RS559471767 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS559473389 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS559473497 CCDC8 Health Risk Conflicting classifications of pathogenicity 3M syndrome 3, 3M syndrome 3
RS55947360 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS559481815 COCH Health Risk Pathogenic/Likely pathogenic Hearing impairment, Hearing loss
RS559485096 NDUFV2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS559488090 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS55948916 COL4A4 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Autosomal recessive Alport syndrome
RS559490847 CTNS Health Risk Conflicting classifications of pathogenicity Nephropathic cystinosis, Ocular cystinosis
RS559497462 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS559502955 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS559510708 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS559510809 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS559512010 OTOG Health Risk Conflicting classifications of pathogenicity —
RS55951681 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS559523018 SLC44A4 Health Risk Conflicting classifications of pathogenicity —
RS55952751 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS559527781 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS559530795 POLRMT Health Risk Conflicting classifications of pathogenicity —
RS559532964 LMNB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 9, Lipodystrophy
RS559534512 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, DNMT3A-related disorder
RS55953736 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS559537625 SHANK2 Health Risk Conflicting classifications of pathogenicity —
RS559539989 NKX3-2 Health Risk Conflicting classifications of pathogenicity NKX3-2-related disorder, Inborn genetic diseases
RS559543526 CFAP74 Health Risk Pathogenic Ciliary dyskinesia, primary
RS559545340 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS559545973 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS559550154 BMPER Health Risk Pathogenic Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS55955023 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS559553527 SAMHD1 Health Risk Likely pathogenic Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5
RS559554788 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS559555349 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS559555727 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease
RS55955638 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS559557496 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS559567467 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS559573879 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS559578990 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS55958016 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS559581937 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS55958434 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS559590419 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS559590585 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS559596593 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS559599846 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS55960271 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS559603378 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS559604901 DST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6
RS559610397 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS559611648 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS55961436 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS559617787 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS559620061 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS559620534 PRAMEF2 Health Risk Conflicting classifications of pathogenicity —
RS559623184 PANK2 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Pigmentary pallidal degeneration
RS559626481 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Bartter syndrome
RS55962656 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS559637881 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS559638270 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
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