Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
BRCA1 p.Glu1038Gly (p.E1038G)
(
ENST00000491747.6,
ENST00000471181.7,
ENST00000461574.2,
ENST00000468300.5,
ENST00000352993.7,
ENST00000470026.6,
ENST00000497488.2,
ENST00000493919.6,
ENST00000477152.6,
ENST00000357654.9,
ENST00000484087.6,
ENST00000494123.6,
ENST00000478531.6,
ENST00000476777.6,
ENST00000493795.5,
ENST00000473961.6,
ENST00000489037.2,
ENST00000586385.5,
ENST00000591534.5,
ENST00000591849.5,
ENST00000618469.2,
ENST00000634433.2,
ENST00000644379.2,
ENST00000644555.2,
ENST00000700182.1,
ENST00000713676.1 )
CHEK2 p.Ile200Thr (p.I200T) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 )
BRCA1 p.Glu1038Gly (p.E1038G) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
CHEK2 p.Ile200Thr (p.I200T) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000649563.1, ENST00000650281.1 ) - Associated Disease
- Papillary thyroid carcinoma
- Source Database
- DisGeNET
- Description
- As a result of the study, we identified CHEK2 rs17879961 (OR = 2.2, P = 2.37e-10) and BRCA1 rs16941 (odds ratio [OR] = 1.16, P = 0.005) as risk alleles for PTC.
- Pubmed
- 24599715
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2014
Drugs