COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Bone Diseases ×
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: rs397514672
rs397514672 		1.000 0.120 17 50185866 missense variant G/A snv
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs72656351
rs72656351 		1.000 0.120 17 50185576 missense variant C/A;T snv 2.8E-05
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		Musculoskeletal Diseases 0.010 1.000 1 2002 2002