Annotation Detail

Information
Associated Genes
KCNJ11
Associated Variants
CNNM1 c.2403+2206G>A ( ENST00000356713.5, ENST00000696687.1 )
KCNJ11 p.Leu270Val (p.L270V) ( ENST00000339994.5, ENST00000682350.1, ENST00000682764.1, ENST00000528731.1 )
KCNJ11 p.Leu270Met (p.L270M) ( ENST00000528731.1, ENST00000682764.1, ENST00000682350.1, ENST00000339994.5 )
SLC41A1 c.1357-1560G>A ( ENST00000367137.4 )
rs11590362
rs5930817
rs5929706
CNNM1 c.2403+2206G>A ( ENST00000356713.5, ENST00000696687.1 )
KCNJ11 p.Leu270Val (p.L270V) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Leu270Met (p.L270M) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
SLC41A1 c.1357-1560G>A ( ENST00000367137.4 )
rs11590362
rs5930817
rs5929706
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals were strengthened [rs11590362 in claudin 19 (CLDN19), rs823154 in SLC41A1, rs5929706 and rs5930817 in membra; HA: ≥0.313 g/d), rs6584273 in CNNM1 (OR: 0.71; FDR-adjusted P = 0.04) and rs1800467 in potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) (OR: 2.50; FDR-adjusted P = 0.01) were significantly associated with T2D risk.
Pubmed
25733456
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.465515535975549
Year of publication
2015
Drugs