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: rs121434478
rs121434478
ATIC
1 1.000 0.200 2 215344828 missense variant A/G snv 1.2E-05 2.1E-05 0.800 1.000 1 2004 2004