Annotation Detail
Information
- Associated Genes
- PTPN22
- Associated Variants
-
TSHR c.170+63G>C
(
ENST00000554435.1,
ENST00000642209.1,
ENST00000342443.10,
ENST00000554263.5,
ENST00000541158.6,
ENST00000298171.7 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000612242.4, ENST00000261441.9 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000612242.4, ENST00000261441.9 )
rs7528684
TSHR c.170+63G>C ( ENST00000298171.7, ENST00000342443.10, ENST00000541158.6, ENST00000554263.5, ENST00000554435.1, ENST00000642209.1 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000261441.9, ENST00000612242.4 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000261441.9, ENST00000612242.4 )
rs7528684 - Associated Disease
- Graves Disease
- Source Database
- DisGeNET
- Description
- The AA genotype of PTPN22 rs3789604 and AA genotype of FCRL3 rs7528684 were correlated with a reduced risk of GD, while the CC genotype of TSHR rs2239610 was associated with higher serum concentrations of FT4 and TRAb.
- Pubmed
- 19438904
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.144722411534287
- Year of publication
- 2010
Drugs