COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
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: rs758488397
rs758488397
1.000 0.080 7 94412666 missense variant G/A;C snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016