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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 0.857 7 2012 2019
dbSNP: rs1057519771
rs1057519771
ABL1
2 1.000 0.080 9 130872201 missense variant G/C snv 0.730 1.000 4 2009 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
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: rs12573787
rs12573787
PTEN ; KLLN
1 1.000 0.080 10 87863959 5 prime UTR variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs6931104
rs6931104
ARMT1
1 1.000 0.080 6 151465042 intron variant G/A snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs766124888
rs766124888
BCR
1 1.000 0.080 22 23253817 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs775014154
rs775014154
BCR ; RSPH14
1 1.000 0.080 22 23181637 missense variant C/T snv 5.8E-05 7.0E-05 0.010 1.000 1 2019 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: 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: 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: rs1343187782
rs1343187782
GOLGA4
1 1.000 0.080 3 37298923 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2018 2018
dbSNP: rs628031
rs628031
SLC22A1
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2018 2018
dbSNP: rs683369
rs683369
SLC22A1
7 0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs717620
rs717620
ABCC2
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.010 1.000 1 2018 2018
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 1.000 1 2018 2018
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: 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: rs121913454
rs121913454
ABL1
2 0.925 0.080 9 130874969 missense variant A/G snv 0.710 1.000 8 2002 2016
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 2010 2016
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