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
RS752131891 CDH3 Health Risk Pathogenic Congenital hypotrichosis with juvenile macular dystrophy, Congenital hypotrichosis with juvenile macular dystrophy
RS752132275 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS752134549 RSRC2 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS752134669 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS752134753 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS752134900 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS752135143 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS752135269 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS752135284 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS752135996 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS752136178 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS752136581 CIC Health Risk Conflicting classifications of pathogenicity Congenital cerebellar hypoplasia, Congenital cerebellar hypoplasia
RS752136594 FANCM Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS752137335 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS752137434 CFAP410 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy with or without macular staphyloma
RS752137615 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS752137856 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS752137872 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS752138290 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS752140135 CEP135 Health Risk Pathogenic/Likely pathogenic Microcephaly 8, primary
RS752141197 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS752141701 TMEM231 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 20, Meckel syndrome
RS752141860 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752142489 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS752143061 FDXR Health Risk Pathogenic/Likely pathogenic Auditory neuropathy-optic atrophy syndrome, Inborn genetic diseases
RS752143388 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS752143706 SLC2A1 Health Risk Likely pathogenic —
RS752144368 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS752144775 RYR2 Health Risk Conflicting classifications of pathogenicity Ventricular tachycardia, Cardiomyopathy
RS752145071 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome 3b, autosomal recessive
RS752145775 GFM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752145794 PEPD Health Risk Pathogenic/Likely pathogenic —
RS752147287 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS752147871 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2
RS752148586 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS752148857 POLE Health Risk Conflicting classifications of pathogenicity —
RS752149463 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, AUH-related disorder
RS752149683 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS752150024 RTTN Health Risk Pathogenic/Likely pathogenic —
RS752150323 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752150906 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS752151031 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS752152002 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS752152148 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS752152305 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS752152483 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS752153225 ACAD8 Health Risk Likely pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS752153829 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS752155273 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS752155450 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS752155690 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS752156383 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752156505 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS752158933 GANAB Health Risk Pathogenic/Likely pathogenic POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE, Polycystic kidney disease 3 with or without polycystic liver disease
RS752159625 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis
RS752159793 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS752159903 CWC27 Health Risk Pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Retinal dystrophy
RS752160342 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS752160946 ABCA4 Health Risk Pathogenic Retinitis pigmentosa 19, Retinitis pigmentosa 19
RS752160950 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS752162999 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS752163032 SLC38A8 Health Risk Pathogenic —
RS752163457 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS752164207 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS752164603 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS752164796 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS752168132 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS752169336 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS752169625 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS752169967 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752170592 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS752170606 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS752171066 TMEM107 Health Risk Pathogenic Orofaciodigital syndrome 16, Orofaciodigital syndrome
RS752173491 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS752175052 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS752176040 TMCO1 Health Risk Pathogenic/Likely pathogenic Craniofacial dysmorphism, skeletal anomalies
RS752176305 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752176414 ALOX12B Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis
RS752177002 GLB1 Health Risk Pathogenic/Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis
RS752177240 PEX6 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder
RS752177472 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, LRSAM1-related disorder
RS752177638 DLL1 Health Risk Pathogenic —
RS752178081 EHMT1 Health Risk Likely pathogenic —
RS752178257 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS752179149 ADGRV1 Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2C
RS752179828 SPINK5 Health Risk Pathogenic/Likely pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS752179960 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752180110 INF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E
RS752180212 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS75218052 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS752180749 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS752181922 COL9A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS752183158 LAMA2 Health Risk Likely pathogenic —
RS752184595 ERCC6L2 Health Risk Pathogenic —
RS752184633 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS752185152 ESPN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ESPN-related disorder
RS752188036 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS752188418 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS752189445 ERCC6L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752189808 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
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