Source: CLINVAR

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: rs146036912
rs146036912
0.925 0.080 4 108027727 missense variant T/C snv 6.8E-05 9.8E-05
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.700 0
dbSNP: rs146036912
rs146036912
0.925 0.080 4 108027727 missense variant T/C snv 6.8E-05 9.8E-05
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
0.700 0