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
RS373931233 NPHS1 Health Risk Conflicting classifications of pathogenicity —
RS373931846 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS373932824 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Beckwith-Wiedemann syndrome
RS373933410 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS373935449 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS373935836 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS373937326 LOXHD1 Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 77
RS373938258 LIG4 Health Risk Pathogenic/Likely pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS373939052 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS373939435 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS373940385 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS373940701 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS373941682 GREM2 Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS373942326 MYO7A Health Risk Likely pathogenic MYO7A-related disorder, MYO7A-related disorder
RS373942624 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS373942842 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS373944025 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS373944670 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS373945272 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS373945555 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS373945647 TANC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with autistic features and language delay
RS373945846 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS373946181 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS373946195 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS373946448 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS373946758 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Inborn genetic diseases
RS373948031 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373948210 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS373948582 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS373948887 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS373950992 FGD1 Health Risk Conflicting classifications of pathogenicity Aarskog syndrome, Aarskog syndrome
RS373951075 PCSK1 Health Risk Conflicting classifications of pathogenicity Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS373951216 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS373951297 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome with renal defect
RS373951547 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS373951977 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS373952002 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS373952777 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS373952897 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alport syndrome 3b
RS373953725 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS373953903 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373954000 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS373954227 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS373954247 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS373954823 SLC17A8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373955161 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373955374 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS373955397 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS373955726 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS373956807 DOCK6 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS373957035 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS373957283 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS373957300 BRF1 Health Risk Conflicting classifications of pathogenicity Cerebellar-facial-dental syndrome, Inborn genetic diseases
RS373958499 MSH6 Health Risk Pathogenic Endometrial carcinoma, Endometrial carcinoma
RS373958891 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS373959972 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS373960465 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS373960609 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS373961048 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS373961067 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS373961682 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS373962350 HSF4 Health Risk Conflicting classifications of pathogenicity Cataract 5 multiple types, Inborn genetic diseases
RS373962831 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis
RS373963067 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373963382 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
RS373963384 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS373965494 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS373965624 LIFR Health Risk Pathogenic —
RS373965771 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS373966403 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS373968693 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 2, Cardiovascular phenotype
RS373968888 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS373969291 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS373969392 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS373969485 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS373969675 MAP3K15 Health Risk Conflicting classifications of pathogenicity —
RS373970237 PALB2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Familial cancer of breast
RS373970291 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS373970388 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS373970754 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373971175 CACNA1E Health Risk Conflicting classifications of pathogenicity Intellectual disability, Developmental and epileptic encephalopathy
RS373971446 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS373971587 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS373971613 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS373971761 PIEZO2 Health Risk Conflicting classifications of pathogenicity —
RS373971974 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS373973399 ITPR1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 29, Autosomal dominant cerebellar ataxia
RS373973800 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373973880 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS373973956 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS373974298 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS373974792 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS373975278 CIT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS3739757 MPDZ Health Risk Conflicting classifications of pathogenicity —
RS373975901 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS373976323 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS373977008 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS373978786 CDHR1 Health Risk Pathogenic Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS373979283 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS373979305 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRAPPC9-related disorder
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