ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Disease: Carcinoma of lung ×
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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.070 0.857 7 2003 2019
dbSNP: rs1047768
rs1047768 		0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs751402
rs751402 		0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs873601
rs873601 		0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017