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
RS2509130428 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2509130471 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509130611 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2509133581 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509133663 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS2509135035 RAD51D Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2509135094 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2509135407 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509135478 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509137669 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509137893 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2509138759 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509140612 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2509142628 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509142706 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2509142747 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509142832 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509143037 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS2509143087 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2509143271 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2509143339 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2509143386 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2509144215 CLTC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 56
RS2509150097 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2509150617 CLTC Health Risk Likely pathogenic —
RS2509150764 CLTC Health Risk Likely pathogenic —
RS2509151066 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2509151608 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2509151829 CLTC Health Risk Likely pathogenic —
RS2509152668 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509152675 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2509152697 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS2509152842 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS2509153423 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2509153473 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2509153854 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2509154133 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2509155001 CLTC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 56
RS2509155128 CLTC Health Risk Pathogenic —
RS2509155514 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509155618 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2509155661 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509156659 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509156967 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509156997 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509157043 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509157160 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509157685 CLTC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2509157718 COL1A1 Health Risk Pathogenic Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, Osteogenesis imperfecta type I
RS2509157723 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509157877 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2509158550 CLTC Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2509158651 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2509158820 CLTC Health Risk Pathogenic —
RS2509159489 COL1A1 Health Risk Likely pathogenic COL1A1-related disorder, COL1A1-related disorder
RS2509159584 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509159786 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS2509160384 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509160982 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509161006 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS2509161402 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509161596 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509161707 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509162830 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509162962 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509163856 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509163875 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509163924 COL1A1 Health Risk Pathogenic See cases, See cases
RS2509164332 COL1A1 Health Risk Likely pathogenic COL1A1-related disorder, COL1A1-related disorder
RS2509165121 CLTC Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2509165203 CLTC Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2509165406 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509165452 COL1A1 Health Risk Likely pathogenic COL1A1-related disorder, COL1A1-related disorder
RS2509165688 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509166330 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509166433 COL1A1 Health Risk Likely pathogenic COL1A1-related disorder, COL1A1-related disorder
RS2509166526 COL1A1 Health Risk Pathogenic See cases, See cases
RS2509166957 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509167080 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509167461 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509167969 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168063 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168093 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168104 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS2509168202 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168351 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168475 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509169443 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509169504 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509169652 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509169676 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), PEX12-related disorder
RS2509169855 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509169869 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509169901 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509169974 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS2509170044 COL1A1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2509170063 COL1A1 Health Risk Pathogenic —
RS2509170081 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509170117 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509170188 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
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