Annotation Detail
Information
- Associated Genes
- PTPN22
- Associated Variants
-
RSBN1 p.Arg31= (p.R31=)
(
ENST00000612242.4,
ENST00000261441.9 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000612242.4, ENST00000261441.9 )
PTPN22 c.2054-852T>C ( ENST00000528414.5, ENST00000420377.6, ENST00000525799.1, ENST00000538253.5, ENST00000359785.10, ENST00000460620.5 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000261441.9, ENST00000612242.4 )
RSBN1 p.Arg31= (p.R31=) ( ENST00000261441.9, ENST00000612242.4 )
PTPN22 c.2054-852T>C ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 ) - Associated Disease
- rheumatoid arthritis
- Source Database
- DisGeNET
- Description
- We compared the allele frequencies of five haplotype-tagging SNPs in the PTPN22 gene, 2 of which are reportedly associated with RA in Caucasians (rs3789604 and rs1310182), and compared haplotype distributions between 184 Japanese T1D patients and 179 healthy controls.
- Pubmed
- 20510318
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.524345610778177
- Year of publication
- 2010
Drugs