Annotation Detail
Information
- Associated Genes
- CD247
- Associated Variants
-
CD247 c.59-10421A>C
(
ENST00000700108.1,
ENST00000700134.1,
ENST00000700106.1,
ENST00000700105.1,
ENST00000362089.10,
ENST00000700109.1,
ENST00000700158.1,
ENST00000700107.1,
ENST00000700160.1,
ENST00000700165.1,
ENST00000700142.1,
ENST00000392122.4,
ENST00000700159.1 )
STAT4 c.1434+1167C>T ( ENST00000358470.8, ENST00000392320.7, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
rs4728142
TNPO3 SNV
rs12537284
CD247 c.59-10421A>C ( ENST00000362089.10, ENST00000392122.4, ENST00000700105.1, ENST00000700106.1, ENST00000700107.1, ENST00000700108.1, ENST00000700109.1, ENST00000700134.1, ENST00000700142.1, ENST00000700158.1, ENST00000700159.1, ENST00000700160.1, ENST00000700165.1 )
STAT4 c.1434+1167C>T ( ENST00000358470.8, ENST00000392320.7, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
rs4728142
TNPO3 SNV
rs12537284 - Associated Disease
- systemic scleroderma
- Source Database
- DisGeNET
- Description
- Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.
- Pubmed
- 22440820
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.245548389573445
- Year of publication
- 2012
Drugs