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
RS748862853 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS748863662 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS748863844 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS748865271 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS748865622 SPART Health Risk Pathogenic/Likely pathogenic SPART-related disorder, SPART-related disorder
RS74886565 SALL1 Health Risk Conflicting classifications of pathogenicity SALL1-related disorder, Townes syndrome
RS748866016 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS748867146 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS748867884 SERPINF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748867973 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS748868741 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS748868815 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS748869874 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS748870133 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS748870159 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS748870349 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS748872789 SLC45A2 Health Risk Pathogenic Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism
RS748872992 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS748873603 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748874219 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS748874982 F7 Health Risk Pathogenic —
RS748875458 NAGS Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III
RS748876063 SMC3 Health Risk Likely pathogenic De Lange syndrome, Inborn genetic diseases
RS748876393 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS748876465 CERKL Health Risk Pathogenic —
RS748876604 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS748876625 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS748876967 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS748877741 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS748877758 SLC26A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748878853 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Carcinoma of colon
RS748878963 ALG3 Health Risk Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS748879270 XDH Health Risk Pathogenic Xanthinuria type II, Hereditary xanthinuria type 1
RS748879665 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS748879947 WNK4 Health Risk Conflicting classifications of pathogenicity —
RS748880753 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS748881862 MAP3K20 Health Risk Likely pathogenic —
RS748882337 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS748882482 IRF6 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 6, susceptibility to
RS748882657 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748883680 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS748883997 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS748885294 SKIC3 Health Risk Pathogenic —
RS748885610 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748886997 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS748887276 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS748888649 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS748888652 KMT2B Health Risk Pathogenic Global developmental delay, Dystonia 28
RS748889028 TMEM237 Health Risk Likely pathogenic —
RS748889237 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS748889605 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS74888964 EPS8 Health Risk Conflicting classifications of pathogenicity EPS8-related disorder, Inborn genetic diseases
RS748890115 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS748891343 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS748891586 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS748892226 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS748892794 GGCX Health Risk Pathogenic/Likely pathogenic GGCX-related disorder, GGCX-related disorder
RS748893301 ADA2 Health Risk Pathogenic/Likely pathogenic Sneddon syndrome, Deficiency of adenosine deaminase 2
RS748893499 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS748894535 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS748894760 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS748896801 MARVELD2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS748897456 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS748898098 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS748898273 PRKACB Health Risk Pathogenic Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2
RS748898708 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS748899221 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS748899308 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS748899869 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Inborn genetic diseases
RS748900140 HDAC4 Health Risk Pathogenic Chromosome 2q37 deletion syndrome, Chromosome 2q37 deletion syndrome
RS748900391 SUOX Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, SUOX-related disorder
RS748900621 TBX20 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 4, Cardiovascular phenotype
RS748900993 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS748901010 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS748901196 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism
RS748901402 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS748901883 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS748901968 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748902332 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases
RS748902647 CNGA1 Health Risk Pathogenic —
RS748902766 NMNAT1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 9
RS748903681 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS748904322 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Inborn genetic diseases
RS748906528 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, DYNC2H1-related disorder
RS748906857 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS748907807 GDF5 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 2C, Hunter-Thompson type
RS748907928 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS748908505 GLRA1 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 1, Hyperekplexia 1
RS748908539 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS748908765 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS748910382 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS748910652 NFKB2 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS748911107 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS748911913 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS748912293 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS748912340 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS748912949 TTF1 Health Risk Conflicting classifications of pathogenicity —
RS748912987 DNAH17 Health Risk Likely pathogenic DNAH17-related disorder, DNAH17-related disorder
RS748914604 TREX1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS748917057 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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