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: 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: rs1057519772
rs1057519772
ABL1
1 1.000 0.080 9 130872895 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.800 0.943 105 2001 2020
dbSNP: rs1057519773
rs1057519773
ABL1
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.710 1.000 2 2008 2011
dbSNP: rs1057519774
rs1057519774
ABL1
1 1.000 0.080 9 130872902 missense variant T/G snv 0.700 1.000 1 2011 2011
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: rs121913457
rs121913457
ABL1
1 1.000 0.080 9 130873004 missense variant T/C snv 0.710 1.000 15 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: 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: rs1057519775
rs1057519775
ABL1
1 1.000 0.080 9 130873028 missense variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs121913454
rs121913454
ABL1
2 0.925 0.080 9 130874969 missense variant A/G snv 0.710 1.000 8 2002 2016
dbSNP: rs1064156
rs1064156
ABL1
1 1.000 0.080 9 130878519 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs886063722
rs886063722
AGPAT2
1 1.000 0.080 9 136677118 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121913370
rs121913370
BRAF
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 1.000 2 2014 2014
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: 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: 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: rs45511401
rs45511401
ABCC1
4 0.851 0.120 16 16079375 missense variant G/T snv 3.8E-02 3.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs4148356
rs4148356
ABCC1
4 0.851 0.120 16 16083418 missense variant G/A snv 2.3E-02 1.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs532354124
rs532354124
ASPM
1 1.000 0.080 1 197103274 missense variant T/C;G snv 0.010 1.000 1 2013 2013
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: rs375912312
rs375912312
EPHA8
1 1.000 0.080 1 22588916 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs369488601
rs369488601
BCR ; RSPH14
1 1.000 0.080 22 23181175 missense variant G/A;C snv 1.9E-05; 9.7E-05 0.010 1.000 1 2016 2016
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