Annotation Detail

Information
Associated Genes
OGG1
Associated Variants
rs174538 ( ENST00000543510.1 )
FEN1 c.*323G>T ( ENST00000305885.3 )
rs7402844
NEIL1 c.*589G>C ( ENST00000355059.9 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 )
OGG1 c.948+613A>G, CAMK1 c.*110T>C ( ENST00000302008.12, ENST00000302036.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1, ENST00000256460.8 )
rs174538 ( ENST00000543510.1 )
FEN1 c.*323G>T ( ENST00000305885.3 )
rs7402844
NEIL1 c.*589G>C ( ENST00000355059.9 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 )
OGG1 c.948+613A>G, CAMK1 c.*110T>C ( ENST00000302008.12, ENST00000302036.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1, ENST00000256460.8 )
Associated Disease
Squamous cell carcinoma of esophagus
Source Database
DisGeNET
Description
NEIL1 reference SNP 4462560 (rs4462560) and rs7402844, hOGG1 rs1052133 and rs293795, and FEN1 rs4246215 and rs174538 were genotyped in 187 patients with ESCC who received definitive radiotherapy with or without chemotherapy.
Pubmed
24022861
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2013
Drugs