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: rs782047455
rs782047455
3 0.925 0.160 X 37793674 missense variant C/T snv 5.5E-06 0.010 1.000 1 2011 2011