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: rs132630273
rs132630273
WAS
3 0.925 0.120 X 48684284 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs61749397
rs61749397
VWF
9 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.030 1.000 3 2010 2017
dbSNP: rs61749384
rs61749384
VWF
5 0.882 0.080 12 6019502 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs779449782
rs779449782
VWF
1 12 6057915 missense variant G/A;C snv 1.6E-05 1.4E-05 0.010 1.000 1 1992 1992
dbSNP: rs138924661
rs138924661
TRIM25 ; DGKE
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0
dbSNP: rs5030437
rs5030437
TRAF6
1 11 36503205 intron variant A/G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs5030470
rs5030470
TRAF6
1 11 36493896 intron variant A/G snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs76600635
rs76600635
TLR1
3 0.925 0.040 4 38798702 missense variant A/G snv 8.2E-03 2.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs760797899
rs760797899
THPO
1 3 184375917 missense variant G/A snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs483352867
rs483352867
STIM1
8 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs886043118
rs886043118
STAT1
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
dbSNP: rs879255268
rs879255268
SRC
3 0.925 0.040 20 37403347 missense variant G/A snv 0.710 1.000 1 2019 2019
dbSNP: rs869320714
rs869320714
SLFN14
3 1.000 17 35557404 missense variant A/T snv 0.700 0
dbSNP: rs869320715
rs869320715
SLFN14
3 1.000 17 35557406 missense variant T/A snv 0.700 0
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs10759637
rs10759637
SLC31A1 ; CDC26
2 1.000 0.040 9 113262744 3 prime UTR variant A/C snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs760370
rs760370
SLC29A1
3 0.925 0.120 6 44233216 intron variant A/G snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1556620697
rs1556620697
SH2D1A ; STAG2
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
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: rs1569008655
rs1569008655
RUNX1
1 21 34799310 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs74315450
rs74315450
RUNX1
5 0.851 0.120 21 34859485 missense variant C/T snv 0.010 1.000 1 2015 2015
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