Annotation Detail
Information
- Associated Genes
- HLA-DQB1
- Associated Variants
-
HLA-DQA1 p.Cys34Tyr (p.C34Y)
(
ENST00000343139.11,
ENST00000374949.2,
ENST00000395363.5 )
HLA-DQA1 p.Phe41Ser (p.F41S) ( ENST00000343139.11, ENST00000374949.2, ENST00000395363.5 )
rs9273349
HLA-DQB1 p.Gln253= (p.Q253=) ( ENST00000374943.8, ENST00000399079.7, ENST00000399082.7, ENST00000399084.5, ENST00000434651.7 )
HLA-DQB1 p.Gln253His (p.Q253H) ( ENST00000374943.8, ENST00000399079.7, ENST00000399082.7, ENST00000399084.5, ENST00000434651.7 )
HLA-DQA1 p.Cys34Tyr (p.C34Y) ( ENST00000343139.11, ENST00000374949.2, ENST00000395363.5 )
HLA-DQA1 p.Phe41Ser (p.F41S) ( ENST00000343139.11, ENST00000374949.2, ENST00000395363.5 )
rs9273349
HLA-DQB1 p.Gln253= (p.Q253=) ( ENST00000374943.8, ENST00000399079.7, ENST00000399082.7, ENST00000399084.5, ENST00000434651.7 )
HLA-DQB1 p.Gln253His (p.Q253H) ( ENST00000374943.8, ENST00000399079.7, ENST00000399082.7, ENST00000399084.5, ENST00000434651.7 ) - Associated Disease
- Steroid-sensitive nephrotic syndrome
- Source Database
- DisGeNET
- Description
- Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1129740, rs9273349, rs1071630, and rs1140343) were significantly associated with SSNS at or near the Bonferroni-adjusted P value for the number of single variants that were tested (odds ratio, 2.11; 95% confidence interval, 1.56 to 2.86; P=1.68×10(-6) (Fisher exact test).
- Pubmed
- 25349203
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2014
Drugs