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: rs878853148
rs878853148
1 1.000 0.200 X 54002150 splice region variant C/G snv 0.700 0
dbSNP: rs121918523
rs121918523
3 0.925 0.200 X 54016662 stop gained T/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121918524
rs121918524
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010