Annotation Detail
Information
- Associated Genes
- SP140
- Associated Variants
-
GRAMD1B c.452+9796G>A
(
ENST00000638157.1,
ENST00000635736.2 )
rs7176508
PRKD2 c.667-6C>T ( ENST00000291281.9, ENST00000433867.5, ENST00000595515.5, ENST00000600194.5, ENST00000601806.5 )
ACOXL c.1369+8167A>G ( ENST00000389811.8, ENST00000439055.6, ENST00000676595.2 )
SP140 c.59+605T>G ( ENST00000343805.10, ENST00000373645.3, ENST00000392045.8, ENST00000417495.7, ENST00000420434.7 )
IRF4 c.*3466A>G ( ENST00000380956.9 )
GRAMD1B c.452+9796G>A ( ENST00000635736.2, ENST00000638157.1 )
rs7176508
PRKD2 c.667-6C>T ( ENST00000291281.9, ENST00000433867.5, ENST00000595515.5, ENST00000600194.5, ENST00000601806.5 )
ACOXL c.1369+8167A>G ( ENST00000389811.8, ENST00000439055.6, ENST00000676595.2 )
SP140 c.59+605T>G ( ENST00000343805.10, ENST00000373645.3, ENST00000392045.8, ENST00000417495.7, ENST00000420434.7 )
IRF4 c.*3466A>G ( ENST00000380956.9 ) - Associated Disease
- chronic lymphocytic leukemia
- Source Database
- DisGeNET
- Description
- We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37.1 (rs13397985, SP140; P = 5.40 x 10(-10)), 6p25.3 (rs872071, IRF4; P = 1.91 x 10(-20)), 11q24.1 (rs735665; P = 3.78 x 10(-12)), 15q23 (rs7176508; P = 4.54 x 10(-12)) and 19q13.32 (rs11083846, PRKD2; P = 3.96 x 10(-9)).
- Pubmed
- 18758461
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.248186863424127
- Year of publication
- 2008
Drugs