Annotation Detail
Information
- Associated Genes
- NLRP1
- Associated Variants
-
NLRP1 p.Leu155His (p.L155H)
(
ENST00000699613.1,
ENST00000571307.2,
ENST00000262467.11,
ENST00000699707.1,
ENST00000699634.1,
ENST00000576905.6,
ENST00000354411.8,
ENST00000617618.5,
ENST00000699633.1,
ENST00000269280.9,
ENST00000699614.1,
ENST00000699712.1,
ENST00000572272.6,
ENST00000699626.1,
ENST00000699710.1,
ENST00000577119.5,
ENST00000571451.7 )
NLRP1 p.Leu155His (p.L155H) ( ENST00000262467.11, ENST00000269280.9, ENST00000354411.8, ENST00000571307.2, ENST00000571451.7, ENST00000572272.6, ENST00000576905.6, ENST00000577119.5, ENST00000617618.5, ENST00000699613.1, ENST00000699614.1, ENST00000699626.1, ENST00000699633.1, ENST00000699634.1, ENST00000699707.1, ENST00000699710.1, ENST00000699712.1 ) - Associated Disease
- Nodular melanoma
- Source Database
- DisGeNET
- Description
- The NLRP1 variant (rs12150220) was significantly more common in fair-skinned female patients (OR, 1.85; CI, 1.04-3.33) and showed strong associations with nodular melanoma (OR, 6.03; CI, 1.33-25).
- Pubmed
- 22524199
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs