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: 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 2012 2012
dbSNP: rs74501188
rs74501188
ADGRV1
1 1.000 0.080 5 90931162 5 prime UTR variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs942190
rs942190
TDP1 ; EFCAB11
2 1.000 0.080 14 89956320 intron variant T/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2006 2012
dbSNP: rs4513061
rs4513061
AGBL1
6 0.807 0.080 15 86428401 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs117729306
rs117729306
STK33
1 1.000 0.080 11 8465623 non coding transcript exon variant T/C snv 7.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs8049634
rs8049634
ADAD2 ; LOC654780
1 1.000 0.080 16 84192073 intron variant A/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs859
rs859
IL16 ; STARD5
6 0.807 0.200 15 81308981 3 prime UTR variant A/G snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs3813565
rs3813565
CHRNB4 ; LOC105370913
6 0.851 0.080 15 78727268 splice region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2011 2011
dbSNP: rs55853698
rs55853698
CHRNA5
5 0.882 0.080 15 78565597 5 prime UTR variant T/G snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs8034191
rs8034191
HYKK
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs140013431
rs140013431
BMP6
1 1.000 0.080 6 7770278 intron variant T/C snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs587781495
rs587781495
TP53
1 1.000 0.080 17 7676005 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs786201057
rs786201057
TP53
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786203436
rs786203436
TP53
20 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs148924904
rs148924904
TP53
17 0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs876660754
rs876660754
TP53
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587780070
rs587780070
TP53
24 0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519991
rs1057519991
TP53
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2016 2016