rs193929358, KCNJ11

N. diseases: 5
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
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
108 0.851 0.240 11 17387091 missense variant C/T snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.851 0.240 11 17387091 missense variant C/T snv 0.010 1.000 1 2007 2007
Developmental Delay, Epilepsy, and Neonatal Diabetes
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
5 0.851 0.240 11 17387091 missense variant C/T snv 0.010 1.000 1 2007 2007
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.240 11 17387091 missense variant C/T snv 0.010 1.000 1 2007 2007
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.240 11 17387091 missense variant C/T snv 0.010 1.000 1 2007 2007