Annotation Detail
Information
- Associated Genes
- MSH6
- Associated Variants
-
rs10795668
POU2AF3 c.102+363C>A ( ENST00000526216.1, ENST00000398035.6, ENST00000638573.1, ENST00000614153.4, ENST00000610738.6 )
rs4444235
rs4779584
CDH1 c.164-14627G>A ( ENST00000261769.10, ENST00000422392.6 )
SMAD7 c.743-5183A>G ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
RHPN2 c.185+2855G>A ( ENST00000254260.8 )
rs961253
rs16892766
rs6983267 ( ENST00000645438.1 )
rs719725
rs10795668
POU2AF3 c.102+363C>A ( ENST00000398035.6, ENST00000526216.1, ENST00000610738.6, ENST00000614153.4, ENST00000638573.1 )
rs4444235
rs4779584
CDH1 c.164-14627G>A ( ENST00000261769.10, ENST00000422392.6 )
SMAD7 c.743-5183A>G ( ENST00000262158.8, ENST00000589634.1, ENST00000591805.5 )
RHPN2 c.185+2855G>A ( ENST00000254260.8 )
rs961253
rs16892766
rs6983267 ( ENST00000645438.1 )
rs719725 - Associated Disease
- Malignant tumor of colon
- Source Database
- DisGeNET
- Description
- A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3).
- Pubmed
- 23434150
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00597172118576667
- Year of publication
- 2013
Drugs