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: 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: rs104894815
rs104894815
GATA1
9 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012
dbSNP: rs121918552
rs121918552
CYCS
2 1.000 0.040 7 25123996 missense variant C/T snv 0.710 1.000 2 2014 2019
dbSNP: rs724159947
rs724159947
ETV6
6 0.851 0.120 12 11869601 missense variant C/T snv 0.710 1.000 2 2015 2015
dbSNP: rs886043118
rs886043118
STAT1
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
dbSNP: rs104894816
rs104894816
GATA1
6 0.827 0.120 X 48792377 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs11598702
rs11598702
NT5C2
1 10 103138228 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs121908064
rs121908064
CHRNE ; GP1BA
3 1.000 0.080 17 4933367 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs121908065
rs121908065
CHRNE ; GP1BA
5 0.851 0.080 17 4933119 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121909752
rs121909752
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
4 0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 0.700 1.000 1 2019 2019
dbSNP: rs1297235855
rs1297235855
GP9
1 3 129062206 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs132630273
rs132630273
WAS
3 0.925 0.120 X 48684284 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs143873938
rs143873938
FLNA
4 0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs1453542
rs1453542
OR4D6
3 0.925 0.040 11 59457412 missense variant G/A;C snv 7.2E-05; 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1559810905
rs1559810905
IFIH1
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
dbSNP: rs1569008655
rs1569008655
RUNX1
1 21 34799310 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1800812
rs1800812
PDGFRA
2 1.000 0.080 4 54228462 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2016 2016
dbSNP: rs2290280
rs2290280
CCNH ; LOC105379066
1 5 87412904 5 prime UTR variant C/A;T snv 0.010 1.000 1 2017 2017
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: rs28928907
rs28928907
MPL
4 0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 0.700 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs398122374
rs398122374
ITGB3 ; THCAT158
3 0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
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: rs483352867
rs483352867
STIM1
8 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2014 2014