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
RS748759848 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS748759945 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748761213 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency
RS748762287 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS748762580 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS748763015 NFKB1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS748763466 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS748763552 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS748763892 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS74876396 TREX1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1
RS748765057 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS748766312 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748766458 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS74876702 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS748767112 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS748767202 CEP152 Health Risk Likely pathogenic Seckel syndrome 5, Microcephaly 9
RS748767737 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS748768461 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Chronic infantile neurological
RS748768672 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS748769354 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS748769566 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS748772899 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS748772971 PLK4 Health Risk Pathogenic —
RS748773142 MIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748774036 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS748774784 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Hereditary spastic paraplegia
RS748776990 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS748777325 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related disorder, FGFR2-related disorder
RS748777382 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS748777581 COL10A1 Health Risk Likely pathogenic —
RS748777783 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS748778102 ZNF341 Health Risk Likely pathogenic —
RS748778907 RAD9B Health Risk Pathogenic Neural tube defect, Neural tube defect
RS748779058 LRP5 Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS748779390 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS748779475 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS748779965 NARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS748780206 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS748780943 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS748781625 CTNNB1 Health Risk Conflicting classifications of pathogenicity —
RS748783182 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS748783975 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS748784115 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748785128 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS748785284 AAGAB Health Risk Pathogenic Palmoplantar keratoderma, punctate type 1A
RS748785824 BBS1;ZDHHC24 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS748786108 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS748787050 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS748787177 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748787734 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS748787779 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS748788136 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS748788377 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS74878897 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS748789700 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS748789925 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS748790230 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS748790273 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS748791414 CFH Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Malignant lymphoma
RS748791502 MGAT2 Health Risk Likely pathogenic —
RS748792378 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS748793138 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS748793270 WDR81 Health Risk Conflicting classifications of pathogenicity Hydrocephalus, congenital
RS748793969 DUOX2 Health Risk Likely pathogenic Nongoitrous Euthyroid Hyperthyrotropinemia, Thyroid dyshormonogenesis 6
RS748795143 MFAP5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS748797209 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS748798133 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS748798324 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Choroidal dystrophy
RS748798523 TBC1D32 Health Risk Likely pathogenic Joubert syndrome 36, Joubert syndrome 36
RS748798632 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS748799148 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS748799656 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS748801701 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS748801711 ABCC2 Health Risk Pathogenic —
RS748801798 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS748801869 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Long QT syndrome
RS748802577 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS748804342 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Inborn genetic diseases
RS74880446 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS748805008 TCOF1 Health Risk Pathogenic/Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS748805290 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS748806220 EDAR Health Risk Conflicting classifications of pathogenicity Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A
RS748808582 CARD14 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pityriasis rubra pilaris
RS748809209 RXYLT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS748809300 MYL11 Health Risk Pathogenic/Likely pathogenic Distal arthrogryposis, Arthrogryposis
RS748809560 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS748809573 MYOZ2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS748809628 GFM1 Health Risk Likely pathogenic —
RS748809831 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS748809942 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS748809996 PDZRN3 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS748810004 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748810619 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS748810737 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS748811222 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS748811241 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS748811826 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS748811873 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS748812251 FAM111A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748812609 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
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