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
RS2524435705 ALX3 Health Risk Pathogenic —
RS2524436507 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524436550 ALX3 Health Risk Pathogenic Frontorhiny, Frontorhiny
RS2524436642 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524439054 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524439055 SCP2 Health Risk Likely pathogenic —
RS2524439130 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524440255 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524440268 RPL5 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS2524440290 RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524443241 VPS13D Health Risk Pathogenic —
RS2524447545 RPL5 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
RS2524447634 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524447645 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524447710 RPL5 Health Risk Pathogenic —
RS2524447751 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524447807 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524447810 RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
RS2524448221 RPL5 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524448276 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524448298 RPL5 Health Risk Likely pathogenic RPL5-related disorder, RPL5-related disorder
RS2524448314 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524448381 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524448571 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524448581 RPL5 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
RS2524449692 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524449933 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524450482 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524450808 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524451273 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524452224 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524452362 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524452384 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524452489 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS2524452544 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524452614 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524454786 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS2524455111 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS2524455153 COL11A1 Health Risk Pathogenic —
RS2524455621 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Stickler syndrome type 2
RS2524456560 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524457676 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524458024 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524458087 RPL5 Health Risk Likely pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS2524458104 RPL5 Health Risk Pathogenic —
RS2524458148 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524458159 RPL5 Health Risk Pathogenic —
RS2524458707 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2524462266 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524465398 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524469783 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524469917 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524470048 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524470295 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524471874 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524472523 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524473364 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524473865 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524474470 PARS2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 75
RS2524477816 HMBS Health Risk Pathogenic —
RS2524478879 COL11A1 Health Risk Pathogenic —
RS2524479569 COL11A1 Health Risk Pathogenic —
RS2524479833 COL11A1 Health Risk Likely pathogenic —
RS2524484819 COL11A1 Health Risk Likely pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS2524490940 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524491217 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524491716 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524491905 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524492094 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524492246 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524492379 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524493095 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524496392 COL11A1 Health Risk Likely pathogenic —
RS2524497352 COL11A1 Health Risk Pathogenic —
RS2524497850 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524498268 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524498281 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524498600 SCP2 Health Risk Pathogenic —
RS2524498793 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524498845 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524499047 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524499198 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524499368 SCP2 Health Risk Pathogenic —
RS2524499650 VPS13D Health Risk Likely pathogenic —
RS2524500585 STXBP3 Health Risk Likely pathogenic —
RS2524513732 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524514950 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2524515643 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524515692 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524515927 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS2524516123 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524516472 DHDDS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS2524516667 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524516669 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524517066 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524517172 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524517271 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2524517535 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS2524517770 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2524517955 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
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