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
RS772027125 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS772028268 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS772028343 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS772028612 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS772028872 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS772029212 HSPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 13, Spastic paraplegia
RS772030670 MARVELD2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS772032607 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS772032719 OTUD6B Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies, seizures
RS772034961 CAD Health Risk Pathogenic —
RS772034969 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS772035924 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS772036783 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
RS772037044 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772037717 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS772037798 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS772037896 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS772038362 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS772038741 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS772038791 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS77203884 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS772039085 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS772039958 IER3IP1 Health Risk Conflicting classifications of pathogenicity Microcephaly, epilepsy
RS772040483 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS772040768 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS772041342 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS772041639 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS772041683 DUOX2 Health Risk Pathogenic —
RS772043913 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS772043928 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS772044176 CFI Health Risk Conflicting classifications of pathogenicity Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly
RS772044341 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Laryngo-onycho-cutaneous syndrome
RS772045314 TOPORS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS772046102 ABCA12 Health Risk Pathogenic/Likely pathogenic —
RS772046189 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS772048719 MARVELD2 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Autosomal recessive nonsyndromic hearing loss 49
RS772049150 AFG2A Health Risk Likely pathogenic —
RS772049322 OTC Health Risk Pathogenic —
RS772049733 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772049858 CNGB1 Health Risk Pathogenic —
RS772050241 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS772052262 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS772055695 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS772056555 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS772057239 PDE6B Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS772058084 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772061007 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS772061558 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS772061676 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772063378 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS772063851 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772066982 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
RS772068213 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS772068497 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS772068772 SACS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS772068893 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS772069524 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS772070316 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772070350 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS772070566 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS772070576 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS772070672 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS772072192 TCF3 Health Risk Likely pathogenic —
RS772072343 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS772072440 AGBL5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS772073388 CIZ1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS772073491 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS772073893 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS772074405 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Inborn genetic diseases
RS772074730 PRKN Health Risk Pathogenic —
RS772076883 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS772077690 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS772078838 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS772078846 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS772079299 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Inborn genetic diseases
RS772080195 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS772081755 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS772082708 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS772082757 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS772082980 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS772083375 PPA2 Health Risk Likely pathogenic Sudden cardiac failure, infantile
RS772084220 PDHB Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS772084930 RPL35A Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS77208665 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS77208721 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS772088198 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS772088402 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS772088992 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS772090345 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Inborn genetic diseases
RS772090790 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS772090874 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS772092387 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS772093353 SLC52A1 Health Risk Conflicting classifications of pathogenicity Vitamin B2 deficiency, Maternal riboflavin deficiency
RS772094360 ABCC8 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus, ABCC8-related disorder
RS772094635 SLC1A4 Health Risk Pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS772095244 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS772096309 ATXN2L Health Risk Conflicting classifications of pathogenicity —
RS772096609 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS772098225 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS772099949 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
« Prev 1 ... 3553 3554 3555 3556 3557 3558 3559 ... 4509 Next »

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

Get Started Free →