Annotation Detail

Information
Associated Genes
CTLA4
Associated Variants
rs1863800
rs733618 ( ENST00000696479.1 )
rs4553808 ( ENST00000696479.1 )
NC_000002.12:g.203867624C>T ( ENST00000696479.1 )
CTLA4 p.Thr17Ala (p.T17A) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 )
CTLA4 p.Thr17Ser (p.T17S) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 )
CTLA4 c.*1148+236G>A
rs1863800
rs733618 ( ENST00000696479.1 )
rs4553808 ( ENST00000696479.1 )
NC_000002.12:g.203867624C>T ( ENST00000696479.1 )
CTLA4 p.Thr17Ala (p.T17A) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 )
CTLA4 p.Thr17Ser (p.T17S) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 )
CTLA4 c.*1148+236G>A
Associated Disease
Autoimmune Diseases
Source Database
DisGeNET
Description
Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs4553808, rs5742909, rs231775, and rs3087243) were investigated for MG in northern Chinese.
Pubmed
25003519
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0638536483755694
Year of publication
2014
Drugs