COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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: rs2075555
rs2075555
0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.710 0.500 2 2007 2011