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: rs104894433
rs104894433
GCH1
1 1.000 0.040 14 54902402 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.800 1.000 16 1994 2011