COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Osteoporosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758488397
rs758488397
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0029456
Disease:
Osteoporosis 		0.010 GeneticVariation BEFREE We found two rare missense mutations, p.Gly496Ala and p.Gly703Ser, in the COL1A2 gene that associate with measures of osteoporosis in Icelanders. 26235824 2016