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: rs76394784
rs76394784
PAH
1.000 0.120 12 102894883 missense variant T/A snv 4.8E-05 7.0E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 1.000 2 2000 2019