Annotation Detail

Information
Associated Genes
GABRG2
Associated Variants
GABRG2 p.Asn196= (p.N196=) ( ENST00000361925.9, ENST00000414552.6, ENST00000638552.1, ENST00000638660.1, ENST00000638772.1, ENST00000639046.1, ENST00000639111.2, ENST00000639213.2, ENST00000639384.1, ENST00000639683.1, ENST00000639975.1, ENST00000640574.1, ENST00000640985.1, ENST00000641017.1 )
GABRG2 p.Asn196= (p.N196=) ( ENST00000361925.9, ENST00000414552.6, ENST00000638552.1, ENST00000638660.1, ENST00000638772.1, ENST00000639046.1, ENST00000639111.2, ENST00000639213.2, ENST00000639384.1, ENST00000639683.1, ENST00000639975.1, ENST00000640574.1, ENST00000640985.1, ENST00000641017.1 )
Associated Disease
Febrile Convulsions
Source Database
DisGeNET
Description
This study showed significant association of GABRG2 rs211037 with susceptibility to FS, caused by two studies with small sample sizes, however the possibility of false positive results due to the effect of significant studies for FS cannot be excluded.
Pubmed
23140995
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.14261300873104
Year of publication
2013
Drugs