rs1554948310, 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.
Diabetes Mellitus, Non-Insulin-Dependent
2672 0.827 0.160 11 17474884 splice donor variant A/G snv 0.700 0
DIABETES MELLITUS, PERMANENT NEONATAL
108 0.827 0.160 11 17474884 splice donor variant A/G snv 0.700 0
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
10 0.827 0.160 11 17474884 splice donor variant A/G snv 0.700 0
Hyperinsulinemic hypoglycemia, familial, 1
147 0.827 0.160 11 17474884 splice donor variant A/G snv 0.700 0
Hypoglycemia, leucine-induced
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
6 0.827 0.160 11 17474884 splice donor variant A/G snv 0.700 0