Source: ALL

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: rs1385251852
rs1385251852
HNF4A ; MIR3646
0.925 0.080 20 44406208 frameshift variant G/- delins
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.700 1.000 1 2013 2013
dbSNP: rs1385251852
rs1385251852
HNF4A ; MIR3646
0.925 0.080 20 44406208 frameshift variant G/- delins
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		0.700 1.000 1 2013 2013