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: rs137852865
rs137852865
HPD
1.000 0.120 12 121849726 missense variant T/C snv 3.2E-05 7.0E-06
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.800 1.000 2 2000 2000