COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
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: rs1430450850
rs1430450850
0.925 0.080 6 33165971 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs748687966
rs748687966
0.925 0.080 6 33181158 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007