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: rs1569061762
rs1569061762
RUNX1
1 21 34859476 missense variant C/T snv 0.700 0
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: rs121918552
rs121918552
CYCS
2 1.000 0.040 7 25123996 missense variant C/T snv 0.710 1.000 2 2014 2019
dbSNP: rs886043118
rs886043118
STAT1
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
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: 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: rs1523127
rs1523127
NR1I2
3 0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs160441
rs160441 		2 1.000 0.040 8 89644760 intron variant T/C snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs218916
rs218916 		2 1.000 0.040 8 89688709 intron variant C/T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs3814055
rs3814055
NR1I2
4 0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs527297896
rs527297896
GFI1B
2 1.000 0.040 9 132988461 missense variant G/T snv 4.9E-04 8.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs5925720
rs5925720
DDX53 ; PTCHD1-AS
3 0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02 0.010 1.000 1 2016 2016
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: rs7729269
rs7729269
MCC
3 0.925 0.040 5 113384697 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs879255268
rs879255268
SRC
3 0.925 0.040 20 37403347 missense variant G/A snv 0.710 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: 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: rs146249964
rs146249964
MPL
5 0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 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: rs4737420
rs4737420
LYN
3 0.925 0.080 8 55895622 non coding transcript exon variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs4986910
rs4986910
CYP3A4
3 0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs5030764
rs5030764
GP9
5 0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 0.700 1.000 1 2019 2019