XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
Disease: Malignant neoplasm of breast ×
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: rs3734091
rs3734091 		0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.333 3 2012 2018
dbSNP: rs1056503
rs1056503 		0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2012 2013
dbSNP: rs1805377
rs1805377 		0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2012 2013
dbSNP: rs6869366
rs6869366 		0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2012 2018
dbSNP: rs10057194
rs10057194 		0.925 0.080 5 83362752 intergenic variant A/G snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2075685
rs2075685 		0.724 0.320 5 83076846 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2075686
rs2075686 		0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs28360317
rs28360317 		0.716 0.280 5 83323739 intron variant -/CCT delins 0.24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012