ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Disease: Breast Carcinoma ×
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: rs17655
rs17655 		0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.060 1.000 6 2008 2016
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2015 2016
dbSNP: rs751402
rs751402 		0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2016
dbSNP: rs1047768
rs1047768 		0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1047769
rs1047769 		0.925 0.080 13 102861594 missense variant A/G snv 3.0E-02 2.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1323697
rs1323697 		0.925 0.080 13 102845499 intron variant G/C snv 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1331207226
rs1331207226 		0.925 0.080 13 102852169 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs144208043
rs144208043 		0.925 0.080 13 102875448 missense variant G/A snv 6.8E-04 6.3E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2296147
rs2296147 		0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs767150364
rs767150364 		0.925 0.080 13 102866344 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs774188914
rs774188914 		0.851 0.200 13 102858296 missense variant C/G snv 2.4E-05 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs873601
rs873601 		0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017