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
RS1555569293 SGCA Health Risk Conflicting classifications of pathogenicity —
RS1555569329 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Qualitative or quantitative defects of alpha-sarcoglycan
RS1555569339 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555569342 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1555570093 MPDU1 Health Risk Likely pathogenic MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS1555570110 MPDU1 Health Risk Likely pathogenic MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS1555570242 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555570266 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555570285 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
RS1555570301 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555570397 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1555570413 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555570422 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555570482 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555570506 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555571116 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555571121 EFTUD2 Health Risk Likely pathogenic —
RS1555571246 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, ELAC2-related disorder
RS1555571529 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555571536 COL1A1 Health Risk Likely pathogenic —
RS1555571589 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS1555571647 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Infantile cortical hyperostosis
RS1555571755 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, 8 conditions
RS1555571766 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS1555571791 KRT14 Health Risk Pathogenic —
RS1555571799 KRT14 Health Risk Likely pathogenic —
RS1555571849 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555571874 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555571916 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, 8 conditions
RS1555571942 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555571967 SERPINF1 Health Risk Conflicting classifications of pathogenicity —
RS1555572013 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555572015 COL1A1 Health Risk Pathogenic —
RS1555572024 COL1A1 Health Risk Likely pathogenic —
RS1555572075 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, COL1A1-related disorder
RS1555572120 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555572121 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555572125 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1555572161 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555572239 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, COL1A1-related disorder
RS1555572249 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555572254 COL1A1 Health Risk Pathogenic Joint hypermobility, Reduced bone mineral density
RS1555572315 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555572316 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS1555572331 COL1A1 Health Risk Pathogenic —
RS1555572401 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type III
RS1555572406 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1555572418 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS1555572456 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555572458 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555572537 COL1A1 Health Risk Pathogenic —
RS1555572640 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555572656 COL1A1 Health Risk Pathogenic —
RS1555572672 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555572756 COL1A1 Health Risk Pathogenic —
RS1555572759 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555572829 ITGB3 Health Risk association Fetal and neonatal alloimmune thrombocytopenia, Fetal and neonatal alloimmune thrombocytopenia
RS1555572859 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1555572908 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555572921 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS1555572999 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1555573004 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555573039 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555573040 COL1A1 Health Risk Pathogenic —
RS1555573111 COL1A1 Health Risk Likely pathogenic —
RS1555573118 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1555573157 COG4 Health Risk Likely pathogenic —
RS1555573247 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555573288 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555573313 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555573342 BRIP1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555573356 BRIP1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555573386 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555573412 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1555573462 GFAP Health Risk Likely pathogenic —
RS1555573484 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555573497 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1555573621 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555573629 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555573633 KRT16 Health Risk Pathogenic Palmoplantar keratoderma, nonepidermolytic
RS1555573684 COL1A1 Health Risk Pathogenic —
RS1555573696 COL1A1 Health Risk Pathogenic —
RS1555573699 COL1A1 Health Risk Pathogenic —
RS1555573734 COL1A1 Health Risk Likely pathogenic —
RS1555573789 COL1A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555573897 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555573968 COL1A1 Health Risk Pathogenic —
RS1555573969 COL1A1 Health Risk Pathogenic —
RS1555574034 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1555574071 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574113 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574123 COL1A1 Health Risk Likely pathogenic —
RS1555574143 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574144 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574151 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS1555574154 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574158 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574177 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1555574249 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS1555574303 COL1A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
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