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: rs1178702025
rs1178702025
SETBP1
1 1.000 0.080 18 44951912 missense variant G/A snv 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: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1257378
rs1257378
PIWIL4 ; LOC105369438
1 1.000 0.080 11 94621792 intron variant A/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs34549764
rs34549764
ABL1
1 1.000 0.080 9 130862953 missense variant A/G snv 2.6E-03 2.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.020 0.500 2 2011 2013
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 0.750 4 2014 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 0.857 7 2012 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.080 0.875 8 2011 2017
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.889 18 2008 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.917 12 2003 2019
dbSNP: rs748843032
rs748843032
MTTP
8 0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06 0.100 0.917 12 2006 2018
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.800 0.943 105 2001 2020
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.730 1.000 18 2001 2014
dbSNP: rs121913461
rs121913461
ABL1
5 0.851 0.120 9 130862970 missense variant T/C snv 0.700 1.000 16 2002 2014
dbSNP: rs121913457
rs121913457
ABL1
1 1.000 0.080 9 130873004 missense variant T/C snv 0.710 1.000 15 2002 2014
dbSNP: rs121913452
rs121913452
ABL1
4 0.851 0.080 9 130873027 missense variant T/A;C;G snv 0.740 1.000 14 2003 2014
dbSNP: rs121913451
rs121913451
ABL1
4 0.851 0.160 9 130872903 missense variant C/A;G snv 0.710 1.000 12 2002 2014
dbSNP: rs121913449
rs121913449
ABL1
1 1.000 0.080 9 130862977 missense variant A/T snv 0.700 1.000 10 2001 2014
dbSNP: rs121913456
rs121913456
ABL1
1 1.000 0.080 9 130862943 missense variant A/G snv 0.710 1.000 10 2002 2014
dbSNP: rs121913450
rs121913450
ABL1
1 1.000 0.080 9 130873016 missense variant A/G snv 0.700 1.000 8 2002 2014
dbSNP: rs121913453
rs121913453
ABL1
1 1.000 0.080 9 130862962 missense variant G/A snv 0.700 1.000 8 2002 2014
dbSNP: rs121913454
rs121913454
ABL1
2 0.925 0.080 9 130874969 missense variant A/G snv 0.710 1.000 8 2002 2016
dbSNP: rs121913455
rs121913455
ABL1
1 1.000 0.080 9 130862955 missense variant C/G snv 0.700 1.000 6 2003 2014