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: rs104894443
rs104894443
GCH1
2 0.925 0.120 14 54844137 missense variant C/T snv 0.800 1.000 2 1995 1998