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
RS566375223 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS566377861 ACOX1 Health Risk Likely pathogenic Muscle weakness, Muscle weakness
RS566381009 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS566388572 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS566409623 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS566411892 HPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566415362 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS566417795 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS566419089 FBN1 Health Risk Conflicting classifications of pathogenicity Acromicric dysplasia, Ectopia lentis 1
RS566436667 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS566440675 ATP6V0A4 Health Risk Pathogenic —
RS566448118 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566450108 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS566453434 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS566454891 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS566461626 MXI1 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS566463138 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS566463967 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS566464225 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS566481621 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS566485657 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS566490774 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS566495420 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS566506678 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS566507872 SLC4A11 Health Risk Pathogenic —
RS566510315 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS566514527 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566515249 DGAT1 Health Risk Likely pathogenic —
RS566516658 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS566518051 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS566519921 TMEM147 Health Risk Pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS566531015 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS566537432 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566540835 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS566549635 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Inborn genetic diseases
RS566562286 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS566562378 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS566563238 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS566568065 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS566572599 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS56657623 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS566579080 TWNK Health Risk Conflicting classifications of pathogenicity —
RS56658066 MED12 Health Risk Conflicting classifications of pathogenicity —
RS566580675 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS566580738 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS566593066 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS566595009 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS566595038 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS566601241 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS566605780 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS566606862 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS566614598 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS566619057 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS566620411 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS566641514 MESP2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 2, autosomal recessive
RS566644989 CPT1C Health Risk Likely pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS566653064 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS566673314 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS566674356 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS566677129 NLRP12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial cold autoinflammatory syndrome 2
RS566680728 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS566690413 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS566693857 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS566695508 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS566704910 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS566705895 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS566713386 LIG3 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
RS56673169 LMNA Health Risk Pathogenic Mandibuloacral dysplasia with type A lipodystrophy, Mandibuloacral dysplasia with type A lipodystrophy
RS566738926 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS566755911 DRC4 Health Risk Pathogenic Primary ciliary dyskinesia 33, GAS8-related disorder
RS566764105 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS566790184 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS56679084 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Alexander disease
RS566794300 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS566806768 AMH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, AMH-related disorder
RS566813395 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS566814350 SLC52A2 Health Risk Likely pathogenic —
RS566816279 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS566827108 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566837952 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS566840716 PRSS56 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 6, Inborn genetic diseases
RS566846495 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS566858747 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS566860680 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS566860712 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1AA
RS566865273 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS566868058 FGF23 Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis
RS566876047 AMH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566876110 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Congenital myasthenic syndrome 16
RS566879134 BICRA Health Risk Conflicting classifications of pathogenicity —
RS566881806 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS566882530 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS566884215 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS566885717 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS56690581 KRT17 Health Risk Likely pathogenic —
RS566911022 MNX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS566912235 RBCK1 Health Risk Likely pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency
RS566913021 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS566914013 SFTPC Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS566917467 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
« Prev 1 ... 2959 2960 2961 2962 2963 2964 2965 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →