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: rs5030853
rs5030853
PAH
0.925 0.120 12 102851701 missense variant C/A snv 5.9E-04 3.4E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 1996 1996