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
RS2509170297 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509170348 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509170684 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509170720 CLTC Health Risk Conflicting classifications of pathogenicity —
RS2509171466 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509171496 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509171635 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509171674 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509172852 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509173100 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509174225 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509174492 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509177024 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509177043 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509177148 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509177384 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509177392 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS2509177625 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509177731 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS2509178555 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2509178927 COL1A1 Health Risk Pathogenic —
RS2509178952 COL1A1 Health Risk Likely pathogenic See cases, See cases
RS2509179683 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509180480 COL1A1 Health Risk Likely pathogenic COL1A1-related disorder, COL1A1-related disorder
RS2509180826 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509180833 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509181292 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509181363 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509181434 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509181607 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2509181675 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2509181684 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509181749 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509181824 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509181838 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509181990 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509182326 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509182335 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509182346 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2509182386 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509182414 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2509182456 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS2509182483 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509182695 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS2509182728 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509183476 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS2509183506 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509183659 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509183959 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509184108 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509184226 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509184342 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509184679 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509184739 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509185002 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509185174 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509185640 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509185694 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509186079 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Ovarian serous cystadenocarcinoma
RS2509186369 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509187011 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2509187069 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, 8 conditions
RS2509187318 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509187339 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509187693 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509188024 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509188207 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509188732 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509188866 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509188882 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509188899 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509188925 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2509189180 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509189216 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509189361 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509189482 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509189531 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509190507 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509190517 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509190543 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509190728 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509190985 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509192021 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509192248 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509193608 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509193629 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509193873 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509193893 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509194098 COL1A1 Health Risk Likely pathogenic COL1A1-related disorder, COL1A1-related disorder
RS2509194385 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509194435 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509197106 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS2509197128 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509197207 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509197349 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509197765 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509200404 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509201078 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509201283 TSPOAP1 Health Risk Pathogenic —
RS2509201560 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
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