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: rs587776867
rs587776867
MBTPS2
2 0.925 0.200 X 21882618 missense variant A/G;T snv 0.010 1.000 1 2015 2015