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: rs878854358
rs878854358
EBP
2 0.925 0.160 X 48523804 stop gained C/A snv 0.010 1.000 1 2012 2012