ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Disease: Primary malignant neoplasm ×
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 0.800 5 2012 2018
dbSNP: rs2296147
rs2296147 		0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 1.000 5 2012 2017
dbSNP: rs751402
rs751402 		0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2012 2017
dbSNP: rs873601
rs873601 		0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2017 2017
dbSNP: rs1047768
rs1047768 		0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2227869
rs2227869 		0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017