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
RS36021462 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS36021856 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS36023765 HBD Health Risk Pathogenic delta Thalassemia, Hepatocellular carcinoma
RS36026721 CSGALNACT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS36026860 SEMA3A Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 16 with or without anosmia, SEMA3A-related disorder
RS36027220 EXOSC8 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia, type 1C
RS36029384 GMPPA Health Risk Conflicting classifications of pathogenicity Alacrima, achalasia
RS36029927 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS36030184 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMC3-related disorder
RS36030668 HADH Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS36033115 UROD Health Risk Conflicting classifications of pathogenicity Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS36038536 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS36038802 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS36040686 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, DSG4-related disorder
RS36042816 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS36044314 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS36049457 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS36053993 MUTYH Health Risk Pathogenic/Likely pathogenic Endometrial cancer, Familial adenomatous polyposis 2
RS36057043 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS36058424 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS36061366 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS36061856 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS36062562 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS36068954 IGFALS Health Risk Conflicting classifications of pathogenicity Short stature due to primary acid-labile subunit deficiency, IGFALS-related disorder
RS36074897 PLVAP Health Risk Conflicting classifications of pathogenicity PLVAP-related disorder, Inborn genetic diseases
RS36078464 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS36083807 FSCB Health Risk Conflicting classifications of pathogenicity —
RS36085113 IRF8 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Immunodeficiency 32B
RS36086547 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS36088710 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS36092904 HBB Health Risk Conflicting classifications of pathogenicity —
RS36093416 UQCRQ Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
RS36100288 TMEM126A Health Risk Conflicting classifications of pathogenicity Autosomal recessive optic atrophy, OPA7 type
RS36104367 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS36106901 SS18L1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, SS18L1-related disorder
RS36107977 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS36108227 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome type 2A
RS36109350 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS36111204 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome
RS36115433 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS36120395 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer
RS36122289 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS36204594 CDKN2A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS36209567 F7 Health Risk Pathogenic/Likely pathogenic Factor VII deficiency, Abnormal bleeding
RS36210421 KCNH2 Health Risk Conflicting classifications of pathogenicity Torsades de pointes, Sudden unexplained death
RS36210422 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS36210423 SCN5A Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Brugada syndrome 1
RS36210737 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS36211715 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS36211722 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS36211723 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS36212064 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS36212066 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
RS36214923 GJA5 Health Risk Conflicting classifications of pathogenicity —
RS36219902 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Cervical cancer, Cervical cancer
RS36220240 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Atypical hemolytic-uremic syndrome
RS36221080 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS36222038 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS36222275 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS36230211 RB1 Health Risk Conflicting classifications of pathogenicity RB1-related disorder, Retinoblastoma
RS36233987 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS362387 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Dilated cardiomyopathy 1U
RS362800 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS363802 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS363804 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS363805 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS363806 FBN1 Health Risk Pathogenic Marfan syndrome, Stiff skin syndrome
RS363807 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS363808 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS363810 FBN1 Health Risk Pathogenic Marfan syndrome, 8 conditions
RS363811 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS363815 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS363816 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS363821 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS363824 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis 1
RS363830 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS363835 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS363847 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Geleophysic dysplasia
RS363852 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS363853 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS364897 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type III
RS366439 LEFTY2 Health Risk Conflicting classifications of pathogenicity Left-right axis malformations, Left-right axis malformations
RS367537992 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS367537998 SMAD2 Health Risk Pathogenic Congenital heart defects, multiple types
RS367537999 SMAD2 Health Risk Pathogenic SMAD2-related cardiac disorders, SMAD2-related cardiac disorders
RS367543004 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS367543005 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, ASL-related disorder
RS367543007 ATP6V0A2 Health Risk Pathogenic Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy
RS367543012 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS367543013 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS367543014 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS367543016 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS367543017 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS367543018 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS367543019 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS367543020 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS367543021 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS367543024 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS367543026 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS367543028 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
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