Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5030849
rs5030849
PAH
6 0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04 0.020 1.000 2 1991 1993
dbSNP: rs5030851
rs5030851
PAH
3 0.925 0.160 12 102852815 missense variant G/A snv 1.0E-04 1.3E-04 0.010 1.000 1 2017 2017