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
RS376044849 RAI1 Health Risk Pathogenic —
RS376045534 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS376045624 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome
RS376046941 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS376048533 IFIH1 Health Risk Likely pathogenic Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS376049260 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS376050426 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Nephropathic cystinosis
RS376051303 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, OAT-related disorder
RS376051686 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS376051922 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376052287 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS376052562 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS376053678 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376053762 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376054085 YARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate C, recessive ARS-related multisystem disease
RS376055208 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376055493 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS376055908 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376056567 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS376057173 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS376057592 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376057899 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376057905 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS376058344 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376058402 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS376058538 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS376058580 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS376060719 P4HB Health Risk Conflicting classifications of pathogenicity P4HB-related disorder, Inborn genetic diseases
RS376060745 RBFOX3 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS376061269 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376061440 RBFOX1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Inborn genetic diseases
RS376062004 ABCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive inherited pseudoxanthoma elasticum
RS376062022 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Kabuki syndrome
RS376062850 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS376063472 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS376065198 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS376067427 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS376067762 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS376067770 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS376068011 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376068063 SCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376069377 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376070186 CLCN6 Health Risk Conflicting classifications of pathogenicity —
RS376070210 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376070681 IGFALS Health Risk Conflicting classifications of pathogenicity Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS376070934 NFATC1 Health Risk Conflicting classifications of pathogenicity —
RS376071070 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS376072545 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS376072867 ATXN3L Health Risk Conflicting classifications of pathogenicity —
RS376073181 LRP4 Health Risk Conflicting classifications of pathogenicity Sclerosteosis 2, Cenani-Lenz syndactyly syndrome
RS376073390 TUBB1 Health Risk Likely pathogenic Macrothrombocytopenia, isolated
RS376074083 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, Lamellar ichthyosis
RS376074787 GJA1 Health Risk Conflicting classifications of pathogenicity Oculodentodigital dysplasia, autosomal recessive
RS376074938 TULP1 Health Risk Pathogenic —
RS376075252 TBK1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Encephalopathy
RS376075583 AP5Z1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 48, Retinal dystrophy
RS376076241 SPEG Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS376076886 CENPF Health Risk Pathogenic/Likely pathogenic Stromme syndrome, Stromme syndrome
RS376078394 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS376078512 MPDZ Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS376078668 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS376080116 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376080374 CREB3L3 Health Risk Conflicting classifications of pathogenicity —
RS376081023 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376081492 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS376082705 AKT3;SDCCAG8 Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Familial cancer of breast
RS376082823 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS376083315 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS376083373 SKIC3 Health Risk Conflicting classifications of pathogenicity —
RS376084632 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS376085865 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376086638 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS376087461 ODAD3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 30, Inborn genetic diseases
RS376087556 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS376087730 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS376087919 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, Inborn genetic diseases
RS376088537 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS376088608 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS376089258 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS376089631 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS376089640 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS376090795 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS376091120 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS376091454 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS376091780 ALMS1 Health Risk Pathogenic Retinal dystrophy, Alstrom syndrome
RS376092818 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tetralogy of Fallot
RS376093439 CABP2 Health Risk Conflicting classifications of pathogenicity CABP2-related disorder, CABP2-related disorder
RS376094545 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS376095522 EFL1 Health Risk Conflicting classifications of pathogenicity Shwachman-Diamond syndrome 2, Shwachman syndrome
RS376096200 SLC38A8 Health Risk Likely pathogenic —
RS376096304 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS376096398 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS376096770 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS376097698 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS376098894 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS376101275 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS376101302 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS376102257 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS376103033 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS376103091 EARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Inborn genetic diseases
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