rs72559715, ABCC8

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.
Hyperinsulinemic hypoglycemia, familial, 1
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
147 0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 0.800 1.000 25 1996 2015
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 0.700 0
DIABETES MELLITUS, PERMANENT NEONATAL
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
108 0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 0.700 0
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
CUI: C1835887
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
10 0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 0.700 0
Hypoglycemia, leucine-induced
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
6 0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 0.700 0