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: rs587776954
rs587776954
C12orf57 ; RNU7-1
6 0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 0.710 1.000 1 2013 2013
dbSNP: rs587777511
rs587777511
LRBA ; MAB21L2
3 0.882 0.320 4 150583181 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs587777512
rs587777512
LRBA ; MAB21L2
7 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs782655345
rs782655345
C12orf57
2 0.925 0.320 12 6944529 start lost A/C;G snv 2.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs917411291
rs917411291
GZMM
9 0.851 0.360 19 544072 start lost A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs917570055
rs917570055
GZMM
7 0.882 0.360 19 547342 start lost A/G snv 0.010 1.000 1 2013 2013