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: rs104886302
rs104886302
COL4A5
3 0.925 0.160 X 108695376 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs151341424
rs151341424
STRA6
3 0.925 0.120 15 74190856 missense variant CC/TT mnv 0.010 1.000 1 2011 2011
dbSNP: rs587777512
rs587777512
LRBA ; MAB21L2
7 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2018 2018