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
RS2484708420 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2484709149 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484709345 COL1A2 Health Risk Pathogenic —
RS2484710174 COL1A2 Health Risk Likely pathogenic COL1A2-related disorder, COL1A2-related disorder
RS2484711152 COL1A2 Health Risk Likely pathogenic —
RS2484712486 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2484712710 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484712940 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484713570 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484713607 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484713609 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484714499 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2484714503 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484714527 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2484714900 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484716070 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484716097 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2484716719 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2484716722 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2484716774 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484716827 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484717396 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS2484717434 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS2484717536 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2484719729 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484719766 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2484719924 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484721195 RELN Health Risk Likely pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484721766 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2484721857 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS2484722803 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2484722826 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484722838 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS2484723993 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2484724006 COL1A2 Health Risk Likely pathogenic —
RS2484724027 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484724068 COL1A2 Health Risk Likely pathogenic COL1A2-related disorder, COL1A2-related disorder
RS2484725181 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484725490 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2484725673 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484725715 COL1A2 Health Risk Pathogenic COL1A2-related disorder, Osteogenesis imperfecta type I
RS2484725719 PEX1 Health Risk Pathogenic Heimler syndrome 1, Zellweger spectrum disorders
RS2484725756 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484725787 PEX1 Health Risk Pathogenic/Likely pathogenic Heimler syndrome 1, Zellweger spectrum disorders
RS2484726009 PEX1 Health Risk Pathogenic/Likely pathogenic Heimler syndrome 1, Zellweger spectrum disorders
RS2484726023 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484726571 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2484727900 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, cardiac valvular type
RS2484729335 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS2484729358 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484729427 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484729507 COL1A2 Health Risk Pathogenic —
RS2484729533 COL1A2 Health Risk Likely pathogenic COL1A2-related disorder, COL1A2-related disorder
RS2484731890 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2484733399 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2484733748 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484733750 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484733902 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484734326 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484734370 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS2484734377 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2484734390 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484734751 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS2484734805 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2484734879 COL1A2 Health Risk Likely pathogenic COL1A2-related disorder, Ehlers-Danlos syndrome
RS2484735280 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2484735314 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2484735353 TRRAP Health Risk Likely pathogenic Hearing loss, autosomal dominant 75
RS2484736269 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2484737317 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS2484737368 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2484737404 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2484737405 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2484737456 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2484737558 COL1A2 Health Risk Likely pathogenic COL1A2-related disorder, COL1A2-related disorder
RS2484737562 COL1A2 Health Risk Likely pathogenic COL1A2-related disorder, COL1A2-related disorder
RS2484737810 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2484740883 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484741062 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS2484741203 RELN Health Risk Likely pathogenic —
RS2484743002 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484743799 COL1A2 Health Risk Pathogenic/Likely pathogenic See cases, Osteogenesis imperfecta type I
RS2484748474 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484748655 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484749278 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484750502 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS2484750954 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2484754163 IL2 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS2484759187 IL2 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS2484761266 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS2484764776 GUSB Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2484765932 TRRAP Health Risk Likely pathogenic —
RS2484765979 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS2484774376 SEMA3A Health Risk risk factor Hypogonadotropic hypogonadism 16 with or without anosmia, Hypogonadotropic hypogonadism 16 with or without anosmia
RS2484776976 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS2484780987 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2484783425 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2484786284 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484786829 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484787497 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
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