rs193929353, KCNJ11

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
DIABETES MELLITUS, PERMANENT NEONATAL
108 0.882 0.120 11 17387206 missense variant T/C;G snv 0.800 1.000 13 2004 2017
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.882 0.120 11 17387206 missense variant T/C;G snv 0.010 1.000 1 2005 2005
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.120 11 17387206 missense variant T/C;G snv 0.010 1.000 1 2005 2005
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 11 17387206 missense variant T/C;G snv 0.010 1.000 1 2005 2005