Source: CURATED

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: rs367674632
rs367674632
0.925 0.120 12 121857775 stop gained C/G;T snv 5.2E-05 1.4E-05
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria
0.700 0
dbSNP: rs367674632
rs367674632
0.925 0.120 12 121857775 stop gained C/G;T snv 5.2E-05 1.4E-05
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.700 0