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: rs121918555
rs121918555
TUBB1
2 0.925 0.040 20 59024379 missense variant C/T snv 4.0E-06; 6.8E-05; 4.0E-06 2.8E-05 0.710 1.000 2 2009 2019
dbSNP: rs387907348
rs387907348
ACTN1
2 0.925 0.040 14 68925641 missense variant C/T snv 0.710 1.000 2 2013 2019
dbSNP: rs121908063
rs121908063
CHRNE ; GP1BA
3 0.882 0.080 17 4932821 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs121918037
rs121918037
GP9
3 0.882 0.080 3 129061951 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs387907345
rs387907345
ACTN1
2 0.925 0.040 14 68921033 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs387907350
rs387907350
ACTN1
2 0.925 0.040 14 68904658 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 1 2019 2019
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
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 0
dbSNP: rs1297298519
rs1297298519
GP9
1 1.000 0.040 3 129062076 frameshift variant T/- del 1.4E-05 0.700 0
dbSNP: rs387907349
rs387907349
ACTN1
2 0.925 0.040 14 68880030 missense variant G/A snv 0.700 0
dbSNP: rs104894809
rs104894809
GATA1
9 0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs104894815
rs104894815
GATA1
9 0.776 0.120 X 48792337 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs104894816
rs104894816
GATA1
6 0.827 0.120 X 48792377 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1064797086
rs1064797086
FLI1
3 0.882 0.080 11 128810639 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1064797087
rs1064797087
FLI1
2 0.925 0.040 11 128810662 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1213948992
rs1213948992
FLI1
1 1.000 0.040 11 128810761 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
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: rs1234442507
rs1234442507
TUBB1
3 1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs137852312
rs137852312
GATA1
3 0.882 0.120 X 48792346 missense variant GG/TC mnv 0.010 1.000 1 2002 2002
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: rs371852125
rs371852125
TUBB1
1 1.000 0.040 20 59023863 missense variant G/A snv 3.6E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs463312
rs463312
TUBB1
4 1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 0.010 < 0.001 1 2009 2009
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 2017 2017
dbSNP: rs587776454
rs587776454
GATA1
4 0.851 0.160 X 48792346 missense variant G/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs61749397
rs61749397
VWF
9 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2016 2016