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: rs1473654052
rs1473654052
2 0.925 0.080 X 118542729 missense variant A/C snv 9.5E-06 0.010 1.000 1 2012 2012