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: rs61749384
rs61749384
VWF
5 0.882 0.080 12 6019502 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs6667202
rs6667202
IL19
4 0.882 0.120 1 206783747 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs724159945
rs724159945
ETV6
3 1.000 12 11885968 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs74315450
rs74315450
RUNX1
5 0.851 0.120 21 34859485 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs74315451
rs74315451
RUNX1 ; LOC112267915
2 1.000 0.120 21 34880665 missense variant C/G snv 0.010 1.000 1 2002 2002
dbSNP: rs759838407
rs759838407
LIG4
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs760797899
rs760797899
THPO
1 3 184375917 missense variant G/A snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs766503255
rs766503255
ITGA2B
4 0.882 0.080 17 44372408 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs766715154
rs766715154
ABCC4
1 13 95206759 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs768288280
rs768288280
DPYD
2 1.000 0.080 1 97740403 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs786205155
rs786205155
ETV6
4 0.882 0.120 12 11884481 missense variant T/C snv 0.710 1.000 1 2015 2015
dbSNP: rs794727505
rs794727505
CLTA ; GNE
1 9 36246181 missense variant A/G snv 8.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs863223318
rs863223318
ANKRD26
2 1.000 0.120 10 27100460 5 prime UTR variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs879255268
rs879255268
SRC
3 0.925 0.040 20 37403347 missense variant G/A snv 0.710 1.000 1 2019 2019
dbSNP: rs1064797085
rs1064797085
FLI1
2 1.000 11 128810620 frameshift variant ATTA/- delins 0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1553196096
rs1553196096
CDC42
5 1 22086463 missense variant G/A snv 0.700 0
dbSNP: rs1554162524
rs1554162524
ELOVL4
4 0.882 0.160 6 79925034 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554785242
rs1554785242
ADAMTS13
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs1554791280
rs1554791280
ADAMTS13
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs1554800065
rs1554800065
ANKRD26
2 1.000 0.120 10 27100445 5 prime UTR variant G/C snv 0.700 0
dbSNP: rs1556620697
rs1556620697
SH2D1A ; STAG2
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs1569061762
rs1569061762
RUNX1
1 21 34859476 missense variant C/T snv 0.700 0
dbSNP: rs1569061768
rs1569061768
RUNX1
2 1.000 0.120 21 34859477 stop gained G/A snv 0.700 0