COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Osteopenia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518930
rs1057518930 		1.000 0.080 17 50197009 splice donor variant C/G snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs66527965
rs66527965 		0.763 0.240 17 50193038 missense variant C/A;T snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1473998316
rs1473998316 		1.000 0.080 17 50195926 synonymous variant A/G snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2007 2007
dbSNP: rs72645347
rs72645347 		0.790 0.280 17 50196337 missense variant G/A snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2007 2007
dbSNP: rs72648365
rs72648365 		0.925 0.240 17 50193990 missense variant G/A;C snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2007 2007
dbSNP: rs72656307
rs72656307 		0.925 0.240 17 50187968 missense variant G/A snv 2.4E-05 2.1E-05
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2007 2007