Annotation Detail

Information
Associated Genes
CDKN2A
Associated Variants
rs1111875
rs5015480
rs7923837
CDKAL1 c.371+11642G>C ( ENST00000274695.8, ENST00000378610.1 )
CDKAL1 c.371+11642G>T ( ENST00000274695.8, ENST00000378610.1 )
CDKAL1 c.371+30101A>G ( ENST00000274695.8, ENST00000378610.1 )
rs10811661
rs1111875
rs5015480
rs7923837
CDKAL1 c.371+11642G>C ( ENST00000274695.8, ENST00000378610.1 )
CDKAL1 c.371+11642G>T ( ENST00000274695.8, ENST00000378610.1 )
CDKAL1 c.371+30101A>G ( ENST00000274695.8, ENST00000378610.1 )
rs10811661
Associated Disease
gestational diabetes
Source Database
DisGeNET
Description
The risk alleles of the SNPs rs7756992 and rs7754840 in CDKAL1; rs10811661 in the CDKN2A-CDKN2B region; and rs1111875, rs5015480 and rs7923837 in HHEX were associated with significant decreases in the insulin AUC during a 100 g OGTT performed at the time of diagnosis of GDM.
Pubmed
19002430
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2009
Drugs