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
RS368678094 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS368678204 SCN5A Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS368680070 NFE2L2 Health Risk Conflicting classifications of pathogenicity —
RS368681081 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, PHGDH deficiency
RS368682034 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS368682161 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS368682932 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Monogenic hearing loss
RS368682964 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS368683806 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS368684717 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS368685017 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS368685980 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS368686031 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Cardiovascular phenotype
RS368686970 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS368687374 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS368687488 FSCN2 Health Risk Conflicting classifications of pathogenicity FSCN2-related disorder, FSCN2-related disorder
RS368689576 LCAT Health Risk Conflicting classifications of pathogenicity LCAT deficiency, Cardiovascular phenotype
RS368689811 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS368690277 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex I deficiency
RS368690400 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS368690601 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS368692202 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368692510 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS368692511 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 30
RS368692594 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS368692976 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368693989 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS368695664 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS368695808 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS368697152 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS368697251 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS368697503 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS368697578 ZPR1 Health Risk Pathogenic Growth restriction, hypoplastic kidneys
RS368698254 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS368698537 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS368698752 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368700710 ZC3H12B Health Risk Conflicting classifications of pathogenicity —
RS368700869 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome
RS368702156 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368702408 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS368703055 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS368703304 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS368705036 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS368705077 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, ANKRD26-related disorder
RS368705240 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS368705652 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS368707741 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS368708058 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS368708177 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS368708382 LBR Health Risk Pathogenic/Likely pathogenic —
RS368708674 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS368709098 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS368709678 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS368710242 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS368710573 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS368710940 ECHDC1 Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS368711923 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS368712041 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS368712338 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS368712550 MCPH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368712763 OTOGL Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 84B, Cervical cancer
RS368713290 COL5A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS368713443 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS368714078 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS368715899 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS368716639 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS368716894 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS368716988 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS368717141 MACF1 Health Risk Conflicting classifications of pathogenicity —
RS368717276 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Inborn genetic diseases
RS368717514 TRIM31 Health Risk Conflicting classifications of pathogenicity —
RS368717991 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS368718180 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS368719678 TBXAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368719987 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS368720062 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Meckel syndrome
RS368720575 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS368721486 FUZ Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS368722464 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368722536 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS368724241 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS368725660 BSND Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368725753 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS368726848 FBN1 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 1, isolated
RS368727469 NEUROD1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus
RS368727638 PLOD2 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 2, Bruck syndrome 2
RS368728064 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 5
RS368728266 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Spermatogenic failure 28
RS368728467 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS368728682 OTOF Health Risk Conflicting classifications of pathogenicity —
RS368728701 CASQ2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS368728762 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS368729011 FLNC Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 26
RS368731454 DDX3X Health Risk Conflicting classifications of pathogenicity —
RS368732206 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS368734792 JAG1 Health Risk Pathogenic JAG1-related disorder, JAG1-related disorder
RS368736137 CPA6 Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 5, Febrile seizures
RS368736266 FCSK Health Risk Conflicting classifications of pathogenicity FCSK-related disorder, FCSK-related disorder
RS368736353 SYNJ1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 53
RS368736791 DNAH1 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
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