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: rs1445893088
rs1445893088
PAH
1.000 0.120 12 102840468 missense variant G/T snv 4.0E-06
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias
0.010 1.000 1 2009 2009