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
RS546150528 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS546151500 ZNF142 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS546156675 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Cutis laxa
RS546162289 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS546168333 ILDR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42
RS546170078 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS546172367 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS546174187 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS546189940 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS546203218 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS546206539 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS546207140 MYBPC1 Health Risk Conflicting classifications of pathogenicity MYBPC1-related disorder, MYBPC1-related disorder
RS546221341 POLQ Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, POLQ-related disorder
RS546224817 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS546224864 POLE2 Health Risk Conflicting classifications of pathogenicity —
RS546225564 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS546234840 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS546247674 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS546250852 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS546280073 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS546280470 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS546287338 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease
RS546292445 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS546300971 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS546308741 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS546327568 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, Hypercholanemia
RS546333402 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS546335527 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases
RS546338962 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS546354639 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS546358774 TMEM126A Health Risk Conflicting classifications of pathogenicity Autosomal recessive optic atrophy, OPA7 type
RS546359789 B9D1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS546361762 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS546373462 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS546381069 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS546384224 MAPKBP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 20, Nephronophthisis 20
RS546399681 OSTM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 5, Inborn genetic diseases
RS546399905 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS546407915 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS546411827 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS546427799 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS546431200 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS546437079 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS546442503 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS546450643 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS546461804 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS546463058 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS546463648 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS546468025 TAF2 Health Risk Conflicting classifications of pathogenicity Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome
RS546468286 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS546473709 COL13A1 Health Risk Conflicting classifications of pathogenicity COL13A1-related disorder, COL13A1-related disorder
RS546484250 RHBDF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS546487084 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS546493336 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS546495818 ESRRB Health Risk Conflicting classifications of pathogenicity —
RS546498421 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS546499094 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS546510242 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS546517702 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS546519295 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
RS546531970 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS546535782 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS546554240 CNNM2 Health Risk Conflicting classifications of pathogenicity —
RS546554430 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS546562229 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS546569747 GNAO1 Health Risk Likely pathogenic Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy
RS546573613 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS546574834 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Microcytic anemia
RS546575046 MYO15A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS546586969 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS546587836 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS546600149 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS546603773 ACP4 Health Risk Pathogenic Amelogenesis imperfecta, type 1J
RS546607673 CFI Health Risk Conflicting classifications of pathogenicity CFI-related disorder, CFI-related disorder
RS546618600 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS546621356 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS546629502 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS546630800 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS546643996 RNF213 Health Risk Conflicting classifications of pathogenicity Moyamoya disease 2, Moyamoya disease 2
RS546650178 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS546652936 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS546653276 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS546653967 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS546660952 CYP21A2 Health Risk Likely pathogenic CYP21A2-related disorder, CYP21A2-related disorder
RS546662496 VWA3B Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia, autosomal recessive 22
RS546664098 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS546669133 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS546670307 CPLANE1 Health Risk Pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS546675124 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Hyperkalemic periodic paralysis
RS546679270 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS546681014 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS546681307 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS546682485 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BRCA2-related cancer predisposition
RS546692544 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS546693824 PPA2 Health Risk Likely pathogenic Sudden cardiac failure, infantile
RS546700169 DPYS Health Risk Conflicting classifications of pathogenicity Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS546702613 RAC3 Health Risk Pathogenic/Likely pathogenic RAC3-related disorder, RAC3-related disorder
RS546713633 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS546721020 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS546724699 IFT81 Health Risk Pathogenic —
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