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: rs3783641
rs3783641
GCH1
4 0.882 0.120 14 54893421 intron variant T/A;C snv 0.25 0.010 1.000 1 2019 2019