Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
PTPRJ p.Arg326Gln (p.R326Q)
(
ENST00000698881.1,
ENST00000418331.7,
ENST00000440289.6 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
PPARG p.His477= (p.H477=) ( ENST00000397000.6, ENST00000397010.7, ENST00000309576.11, ENST00000397015.7, ENST00000397026.7, ENST00000287820.10, ENST00000652431.1, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
MLH1 p.Val384Asp (p.V384D) ( ENST00000458205.6, ENST00000435176.5, ENST00000455445.6, ENST00000456676.7, ENST00000450420.6, ENST00000536378.5, ENST00000231790.8, ENST00000441265.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 )
PTPN13 p.Tyr2086Asp (p.Y2086D) ( ENST00000316707.10, ENST00000411767.7, ENST00000427191.6, ENST00000436978.5, ENST00000511467.1 )
POU5F1B c.-559-2341A>G ( ENST00000465342.4, ENST00000645438.1 )
TCF7L2 SNV
PTPRJ p.Arg326Gln (p.R326Q) ( ENST00000418331.7, ENST00000440289.6, ENST00000698881.1 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
PPARG p.His477= (p.H477=) ( ENST00000287820.10, ENST00000309576.11, ENST00000397000.6, ENST00000397010.7, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
MLH1 p.Val384Asp (p.V384D) ( ENST00000231790.8, ENST00000435176.5, ENST00000441265.6, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 )
PTPN13 p.Tyr2086Asp (p.Y2086D) ( ENST00000316707.10, ENST00000411767.7, ENST00000427191.6, ENST00000436978.5, ENST00000511467.1 )
POU5F1B c.-559-2341A>G ( ENST00000465342.4, ENST00000645438.1 )
TCF7L2 SNV - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in PTPN13, rs1801278 in IRS1, rs7003146 in TCF7L2, rs1503185 in PTPRJ, and rs63750447 in MLH1) were genotyped in Han Chinese subjects, including 216 patients with breast cancer and 216 matched controls, using the Sequenom MassARRAY platform.
- Pubmed
- 24338422
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0084146980344894
- Year of publication
- 2014
Drugs