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: rs2274407
rs2274407
ABCC4
4 0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10 0.010 1.000 1 2009 2009
dbSNP: rs2290280
rs2290280
CCNH ; LOC105379066
1 5 87412904 5 prime UTR variant C/A;T snv 0.010 1.000 1 2017 2017
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: rs80338701
rs80338701
PMM2
14 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 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: rs1556620697
rs1556620697
SH2D1A ; STAG2
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs878853314
rs878853314
GBA
5 0.882 0.240 1 155239655 missense variant C/G snv 0.700 0
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: 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: rs121908065
rs121908065
CHRNE ; GP1BA
5 0.851 0.080 17 4933119 missense variant C/T snv 0.010 1.000 1 2012 2012
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: 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: rs4694362
rs4694362
DCK
1 4 71028147 intron variant C/T snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs483352867
rs483352867
STIM1
8 0.827 0.400 11 4074620 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs74315450
rs74315450
RUNX1
5 0.851 0.120 21 34859485 missense variant C/T snv 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: rs1569061762
rs1569061762
RUNX1
1 21 34859476 missense variant C/T snv 0.700 0
dbSNP: rs757788894
rs757788894
CLCN7
6 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 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: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
dbSNP: rs104894815
rs104894815
GATA1
9 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012