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: rs1375557127
rs1375557127
HNF4A
0.925 0.080 20 44424123 missense variant G/A snv 4.0E-06
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		0.700 1.000 6 2000 2016
dbSNP: rs1375557127
rs1375557127
HNF4A
0.925 0.080 20 44424123 missense variant G/A snv 4.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.700 1.000 6 2000 2016