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: rs587781261
rs587781261
PRPS1
3 0.925 0.160 X 107640932 missense variant G/T snv 0.700 1.000 1 2015 2015