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: rs199475567
rs199475567
PAH
1.000 0.120 12 102912791 missense variant C/A;T snv
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 1.000 1 2018 2018