rs80356625, KCNJ11

N. diseases: 6
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 0.827 0.280 11 17387491 missense variant G/A snv 0.800 1.000 13 2004 2017
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.827 0.280 11 17387491 missense variant G/A snv 0.710 1.000 1 2005 2005
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
CUI: C1833102
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
9 0.827 0.280 11 17387491 missense variant G/A snv 0.700 0
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.827 0.280 11 17387491 missense variant G/A snv 0.010 1.000 1 2005 2005
Mauriac's syndrome
CUI: C0221005
Disease: Mauriac's syndrome
2 0.827 0.280 11 17387491 missense variant G/A snv 0.010 1.000 1 2016 2016
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
33 0.827 0.280 11 17387491 missense variant G/A snv 0.010 1.000 1 2016 2016