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: rs2287886
rs2287886
CD209
9 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs735239
rs735239
CD209
5 0.851 0.240 19 7748382 upstream gene variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs786205154
rs786205154
ETV6
3 1.000 0.120 12 11885921 coding sequence variant GAACA/- delins 0.700 0
dbSNP: rs587776456
rs587776456
GATA1
2 1.000 0.120 X 48794162 stop lost T/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: rs1554162524
rs1554162524
ELOVL4
4 0.882 0.160 6 79925034 splice acceptor variant T/C snv 0.700 0
dbSNP: rs886043118
rs886043118
STAT1
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
dbSNP: rs759838407
rs759838407
LIG4
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs1064797085
rs1064797085
FLI1
2 1.000 11 128810620 frameshift variant ATTA/- delins 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
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: 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: 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: rs1523130
rs1523130
NR1I2
1 3 119780660 5 prime UTR variant T/C snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs2290280
rs2290280
CCNH ; LOC105379066
1 5 87412904 5 prime UTR variant C/A;T snv 0.010 1.000 1 2017 2017
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: 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: rs1554800065
rs1554800065
ANKRD26
2 1.000 0.120 10 27100445 5 prime UTR variant G/C snv 0.700 0
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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2018 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: 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: rs104894816
rs104894816
GATA1
6 0.827 0.120 X 48792377 missense variant A/G snv 0.700 1.000 1 2019 2019