Annotation Detail
Information
- Associated Genes
- GSTM1
- Associated Variants
-
CYP2E1 c.-117-695G>C
(
ENST00000463117.6 )
CYP2E1 c.-117-455C>T ( ENST00000463117.6 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
GSTP1 c.[313A>G;341C>T]
rs4646903
ERCC2 SNV
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
ERCC2 p.Ile199Met (p.I199M) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 )
CYP2E1 c.-117-695G>C ( ENST00000463117.6 )
CYP2E1 c.-117-455C>T ( ENST00000463117.6 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
GSTP1 c.[313A>G;341C>T]
rs4646903
ERCC2 SNV
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
ERCC2 p.Ile199Met (p.I199M) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 ) - Associated Disease
- Leukoplakia
- Source Database
- DisGeNET
- Description
- We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.
- Pubmed
- 21741876
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00581983144552528
- Year of publication
- 2011
Drugs