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
RS2144540279 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144540520 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144540723 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144542232 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144542487 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS2144542582 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144542594 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144542715 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2144542850 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144542880 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144543339 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2144543361 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144543514 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144545179 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144546004 COL1A1 Health Risk Pathogenic —
RS2144546781 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144546898 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144547449 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144547600 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144547622 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS2144547648 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS2144548099 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144548967 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144549155 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2144549369 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS2144549885 COL1A1 Health Risk Pathogenic —
RS2144550040 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144550235 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2144550253 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144550352 COL1A1 Health Risk Pathogenic —
RS2144550479 COL1A1 Health Risk Pathogenic —
RS2144550499 COL1A1 Health Risk Likely pathogenic —
RS2144550692 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144550759 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2144551340 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144551547 COL1A1 Health Risk Likely pathogenic Infantile cortical hyperostosis, Infantile cortical hyperostosis
RS2144551661 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144552243 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144552369 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Osteogenesis imperfecta
RS2144552926 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144553293 COL1A1 Health Risk Pathogenic —
RS2144554325 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144554392 COL1A1 Health Risk Pathogenic —
RS2144554620 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144554674 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS2144555296 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144556146 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2144556507 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144558158 COL1A1 Health Risk Pathogenic —
RS2144558383 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144558687 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144558735 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144559262 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS2144559526 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2144560147 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144560315 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144560659 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2144560786 COL1A1 Health Risk Likely pathogenic —
RS2144561250 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144561474 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144563120 COL1A1 Health Risk Likely pathogenic —
RS2144563277 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144563717 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144563732 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144563843 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2144563856 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144563979 COL1A1 Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS2144564489 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2144564549 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144564620 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144564751 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144565433 ADAMTS18 Health Risk Pathogenic —
RS2144565471 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144565537 COL1A1 Health Risk Likely pathogenic —
RS2144565641 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144569036 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144569160 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2144569208 COL1A1 Health Risk Likely pathogenic Infantile cortical hyperostosis, Sarcoma
RS2144570980 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2144571189 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS2144571454 ADAMTS18 Health Risk Pathogenic —
RS2144572252 KRT9 Health Risk Likely pathogenic Palmoplantar keratoderma, epidermolytic
RS2144572293 KRT9 Health Risk Likely pathogenic —
RS2144572390 FZD2 Health Risk Pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS2144572928 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144573120 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144573246 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144573313 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2144575412 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144575699 COL1A1 Health Risk Pathogenic —
RS2144575934 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144576668 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144576696 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2144576816 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144576822 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, 8 conditions
RS2144576880 COL1A1 Health Risk Likely pathogenic —
RS2144577336 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS2144577718 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2144577875 ADAMTS18 Health Risk Pathogenic —
RS2144578888 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
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