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: rs199475663
rs199475663
PAH
0.925 0.120 12 102866641 missense variant C/G;T snv 2.0E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 2020 2020