Annotation Detail
Information
- Associated Genes
- NLRP1
- Associated Variants
-
NC_000010.11:g.6080046T>A
CLEC16A c.2116+14804T>G ( ENST00000409552.4, ENST00000409790.6, ENST00000703130.1 )
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 )
NC_000010.11:g.6080046T>A
CLEC16A c.2116+14804T>G ( ENST00000409552.4, ENST00000409790.6, ENST00000703130.1 )
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
- Diabetes Mellitus, Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Three variants were found to be significantly associated with type 1 diabetes (T1D): NLRP1 rs12150220 (OR = 0.71, 95% CI = 0.55-0.92, P = 0.01), IL2RA rs11594656 (OR = 0.86, 95% CI = 0.82-0.91, P<0.00001), and CLEC16A rs725613 (OR = 0.71, 95% CI = 0.55-0.92, P = 0.01).
- Pubmed
- 23922971
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00554838957344497
- Year of publication
- 2013
Drugs