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 )
rs2670660 ( ENST00000576905.6 )
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 )
rs2670660 ( ENST00000576905.6 )
Associated Disease
arthritis
Source Database
DisGeNET
Description
Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs2670660 A-G haplotype were associated with SLE in our study population, and in particular with the development of nephritis, rash and arthritis.
Pubmed
22235789
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2012
Drugs