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: rs9989407
rs9989407 		1 16 68730609 intergenic variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2007 2007
dbSNP: rs11191439
rs11191439
AS3MT ; BORCS7-ASMT
6 0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs9527
rs9527
BORCS7 ; BORCS7-ASMT
2 10 102863821 3 prime UTR variant C/T snv 0.21 0.020 1.000 2 2012 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2016 2017
dbSNP: rs4810485
rs4810485
CD40
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs12919719
rs12919719
CDH1
1 16 68788438 intron variant C/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs7196495
rs7196495
CDH1
1 16 68739957 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7196661
rs7196661
CDH1
1 16 68740009 intron variant C/T snv 0.80 0.010 1.000 1 2012 2012
dbSNP: rs1650697
rs1650697
DHFR ; MSH3
3 0.925 0.120 5 80654962 missense variant A/G;T snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs1540087
rs1540087
FOLR1
2 1.000 0.080 11 72190447 5 prime UTR variant G/A snv 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs61735836
rs61735836
FTCD ; FTCD-AS1
3 21 46152973 missense variant C/T snv 5.7E-02 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs11191979
rs11191979
GSTO1
1 10 104265109 intron variant T/C snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2018 2018
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs157077
rs157077
GSTO2
3 1.000 0.080 10 104278136 intron variant T/C snv 0.45 0.53 0.010 1.000 1 2018 2018
dbSNP: rs2297235
rs2297235
GSTO2
11 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2006 2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
3 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2010 2010
dbSNP: rs3024496
rs3024496
IL10
6 0.827 0.200 1 206768519 3 prime UTR variant A/G snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs1133400
rs1133400
INPP5A
4 1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18 0.010 1.000 1 2015 2015