XRCC6, X-ray repair cross complementing 6, 2547

N. diseases: 119; N. variants: 8
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: rs73161324
rs73161324
1.000 0.080 22 41642782 intron variant C/T snv 3.9E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2267437
rs2267437
0.724 0.320 22 41620695 intron variant C/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2012 2015
dbSNP: rs132770
rs132770
0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs132788
rs132788
0.925 0.080 22 41663764 synonymous variant G/A;T snv 8.0E-05; 0.29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5751129
rs5751129
0.752 0.320 22 41619761 intron variant C/T snv 0.69
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015