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: rs104894434
rs104894434
GCH1
2 0.925 0.120 14 54844108 missense variant A/G snv 1.6E-05 2.1E-05 0.700 1.000 2 1995 1998