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: rs17028973
rs17028973
LOC102723576
2 1.000 0.080 4 99401629 intergenic variant T/C snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs698
rs698
ADH1B ; ADH1C
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.840 1.000 6 2009 2016
dbSNP: rs17033
rs17033
ADH1B
3 0.925 0.080 4 99307788 3 prime UTR variant T/C snv 9.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs1042026
rs1042026
ADH1B
2 1.000 0.080 4 99307309 3 prime UTR variant T/C snv 0.24 0.800 1.000 2 2010 2012
dbSNP: rs3805322
rs3805322
ADH4 ; LOC100507053
2 1.000 0.080 4 99135847 intron variant A/G snv 1.1E-02 0.800 1.000 2 2010 2012
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.030 0.667 3 2001 2019
dbSNP: rs3781264
rs3781264
PLCE1
5 0.851 0.120 10 94310618 intron variant A/G snv 0.25 0.700 1.000 2 2010 2012
dbSNP: rs10509670
rs10509670
PLCE1
5 0.851 0.080 10 94308190 intron variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs776933870
rs776933870
PLCE1
3 0.925 0.080 10 94306632 missense variant A/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.900 0.938 16 2010 2019
dbSNP: rs3765524
rs3765524
PLCE1
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.820 1.000 4 2010 2019
dbSNP: rs11187842
rs11187842
PLCE1
5 0.925 0.080 10 94292754 intron variant C/T snv 7.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs753724
rs753724
PLCE1
4 0.882 0.080 10 94291660 intron variant G/A;C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12263737
rs12263737
PLCE1 ; PLCE1-AS1
2 1.000 0.080 10 94285156 intron variant G/A snv 0.32 0.700 1.000 2 2010 2012
dbSNP: rs2274224
rs2274224
PLCE1 ; PLCE1-AS1
6 0.882 0.080 10 94279840 missense variant G/A;C snv 8.8E-05; 0.44 0.010 1.000 1 2013 2013
dbSNP: rs3740360
rs3740360
PLCE1
7 0.827 0.240 10 94265734 intron variant A/C snv 9.7E-02 8.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs11776675
rs11776675
CDH17
1 8 94163787 intron variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs7922612
rs7922612
PLCE1
14 0.752 0.080 10 94051682 intron variant C/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs370426812
rs370426812
FAS
4 0.882 0.200 10 89014312 synonymous variant G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs989902
rs989902
PTPN13
12 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 0.010 1.000 1 2010 2010
dbSNP: rs7763881
rs7763881
HULC ; LOC100506207
11 0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs11972901
rs11972901 		1 7 85966605 intergenic variant A/G snv 0.47 0.700 1.000 1 2012 2012