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: 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: 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: 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: 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: 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: 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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 0.857 7 2012 2019
dbSNP: rs121913455
rs121913455
ABL1
1 1.000 0.080 9 130862955 missense variant C/G snv 0.700 1.000 6 2003 2014
dbSNP: rs121913458
rs121913458
ABL1
1 1.000 0.080 9 130862969 missense variant G/C;T snv 0.700 1.000 6 2002 2014
dbSNP: rs121913460
rs121913460
ABL1
2 0.925 0.080 9 130862971 missense variant A/T snv 0.720 1.000 6 2002 2014
dbSNP: rs1057519758
rs1057519758
ABL1
1 1.000 0.080 9 130872153 missense variant T/G snv 0.700 1.000 5 2004 2014
dbSNP: rs1057519771
rs1057519771
ABL1
2 1.000 0.080 9 130872201 missense variant G/C snv 0.730 1.000 4 2009 2019
dbSNP: rs1360131632
rs1360131632
STAT5A
6 0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06 0.040 1.000 4 2012 2018
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: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.040 1.000 4 2013 2018
dbSNP: rs387906517
rs387906517
ABL1
6 0.827 0.120 9 130862919 missense variant G/A snv 0.730 1.000 4 2006 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2014 2016