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: rs137852216
rs137852216
AMER1
2 0.925 0.080 X 64192230 stop gained G/A snv 0.010 1.000 1 2012 2012