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
RS776432516 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS776433637 CNGB1 Health Risk Pathogenic —
RS776434196 FLNB Health Risk Conflicting classifications of pathogenicity —
RS776436008 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Osteopetrosis
RS776436815 ANTXR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GAPO syndrome
RS776437060 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS776439156 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776439595 ADRB1 Health Risk Pathogenic SHORT SLEEP, FAMILIAL NATURAL
RS776440167 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776441721 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS776442314 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS776442328 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS776443007 CTSF Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS776444312 SLC19A2 Health Risk Conflicting classifications of pathogenicity SLC19A2-related disorder, SLC19A2-related disorder
RS776444956 CSRP3 Health Risk Pathogenic Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS776446104 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Seizures
RS776446238 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS776447057 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS776448126 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TRIM32-related disorder
RS776448394 ATP13A2 Health Risk Pathogenic/Likely pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS776449329 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS776450325 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS776450369 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS776450537 SI Health Risk Likely pathogenic —
RS776451256 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS776451390 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS776452710 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
RS776453307 TLE6 Health Risk Pathogenic/Likely pathogenic Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
RS776453848 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS776455236 TSHR Health Risk Pathogenic —
RS776456971 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS776457078 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Becker muscular dystrophy
RS776459827 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS776460258 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776461147 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Autosomal dominant cerebellar ataxia
RS776461617 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS776462586 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS776463153 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS776463183 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS776463866 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS776464348 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776464539 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS776465410 TUBB3 Health Risk Conflicting classifications of pathogenicity —
RS776466952 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS776468044 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS776468955 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS77646904 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS776469396 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS776469548 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS776470487 SETX Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Spinocerebellar ataxia
RS776471397 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS776472510 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS776472526 LIPA Health Risk Pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS776472768 NLRP12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial cold autoinflammatory syndrome 2
RS776472879 DYSF Health Risk Pathogenic Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1
RS776473269 NPRL2 Health Risk Conflicting classifications of pathogenicity Seizure, Seizure
RS776474397 ANO5 Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS776474571 FUS Health Risk Conflicting classifications of pathogenicity Tremor, hereditary essential
RS776476415 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS776478343 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776478626 EIF2B5 Health Risk Pathogenic —
RS776478974 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS776479029 QDPR Health Risk Conflicting classifications of pathogenicity Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS776480483 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Inborn genetic diseases
RS776480737 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS776483190 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS776483689 CDT1 Health Risk Likely pathogenic Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
RS776483762 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Proteinuria
RS776484311 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS776487201 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS776487884 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS776489281 EIF2B1 Health Risk Conflicting classifications of pathogenicity —
RS776489319 LACC1 Health Risk Likely pathogenic Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
RS776489779 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS776489992 HNF4A Health Risk Pathogenic Hyperinsulinism due to HNF4A deficiency, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
RS776490043 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS776490151 MAD1L1 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS776490661 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS776491302 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS776491345 SLC4A1 Health Risk Conflicting classifications of pathogenicity —
RS776491390 EYA4 Health Risk Likely pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS776493195 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS776493521 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS776493530 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Intellectual disability
RS776493564 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS776493663 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Inborn genetic diseases
RS776493768 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS776493814 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS776493877 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS776495338 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS776495488 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS776496275 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS776496862 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS776496915 NOTCH1 Health Risk Conflicting classifications of pathogenicity NOTCH1-related disorder, Adams-Oliver syndrome 5
RS776498263 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS776498313 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS776498322 PHOX2B Health Risk Conflicting classifications of pathogenicity Congenital central hypoventilation, Neuroblastoma
RS776500881 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Rubinstein-Taybi syndrome
RS776501006 RGS9 Health Risk Likely pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS776501112 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
« Prev 1 ... 3624 3625 3626 3627 3628 3629 3630 ... 4509 Next »

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

Get Started Free →