Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518775
rs1057518775
0.851 0.160 11 17387907 missense variant G/A;C snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.700 0
dbSNP: rs5219
rs5219
0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.040 0.500 4 2005 2019