Annotation Detail
Information
- Associated Genes
- SLC15A4
- Associated Variants
-
rs6590330
SLC15A4 p.Asp259= (p.D259=) ( ENST00000266771.10 )
RASGRP3 c.-261+28880T>C ( ENST00000402538.7, ENST00000403687.8 )
TNIP1 c.-37+1739G>A ( ENST00000315050.11, ENST00000389378.6, ENST00000518977.5, ENST00000520695.6, ENST00000520931.5, ENST00000521001.2, ENST00000521591.6, ENST00000522100.6, ENST00000522226.5, ENST00000523338.5, ENST00000610535.5 )
rs4917014
rs6590330
SLC15A4 p.Asp259= (p.D259=) ( ENST00000266771.10 )
RASGRP3 c.-261+28880T>C ( ENST00000402538.7, ENST00000403687.8 )
TNIP1 c.-37+1739G>A ( ENST00000315050.11, ENST00000389378.6, ENST00000518977.5, ENST00000520695.6, ENST00000520931.5, ENST00000521001.2, ENST00000521591.6, ENST00000522100.6, ENST00000522226.5, ENST00000523338.5, ENST00000610535.5 )
rs4917014 - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- Significant associations were found for the single nucleotide polymorphism rs10036748 of TNIP1 with photosensitivity (odds ratio (OR) = 0.87, p = 0.01) and vasculitis (OR = 1.18, p = 0.04); rs10847697 of SLC15A4 with discoid rash (OR = 1.18, p = 0.02); rs6590330 of ETS1 with SLE of age at diagnosis <20 years (OR = 1.24, p = 8.91 x 10(-5)); rs13385731 of RasGRP3 with malar rash (OR = 1.20, p = 0.01), discoid rash (OR = 0.78, p = 0.02) and ANA (OR = 0.72, p = 0.004); rs4917014 of IKZF1 with renal nephritis (OR = 1.13, p = 0.02) and malar rash (OR = 0.83, p = 0.00038), respectively.
- Pubmed
- 20516000
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.245548389573445
- Year of publication
- 2010
Drugs