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: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2005 2005
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2012 2012
dbSNP: rs10521496
rs10521496
DIAPH2
3 0.882 0.120 X 97043550 intron variant G/A snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs1055821
rs1055821
HLA-B
1 1.000 0.040 6 31354142 3 prime UTR variant G/T snv 5.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1060501343
rs1060501343
MUTYH ; TOE1
1 1.000 0.040 1 45340221 splice donor variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1061147
rs1061147
CFH
1 1.000 0.040 1 196685194 synonymous variant A/C snv 0.68 0.62 0.810 1.000 2 2007 2013
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.900 0.936 218 2005 2019
dbSNP: rs1063320
rs1063320
HLA-G
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1063355
rs1063355
HLA-DQB1 ; HLA-DQB1-AS1
5 0.827 0.320 6 32659937 3 prime UTR variant T/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1064039
rs1064039
CST3
6 0.827 0.200 20 23637790 missense variant C/G;T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1064583
rs1064583
COL10A1 ; NT5DC1
2 0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2015 2015
dbSNP: rs10733086
rs10733086
CFH
1 1.000 0.040 1 196707805 intron variant A/C;T snv 0.800 1.000 3 2013 2018
dbSNP: rs10737670
rs10737670
KCNT2
2 1.000 0.040 1 196388616 intron variant A/C;G snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.800 1.000 4 2010 2013
dbSNP: rs10749466
rs10749466
PLEKHA1
1 1.000 0.040 10 122379288 intron variant A/G snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10753929
rs10753929
ADIPOR1
1 1.000 0.040 1 202954050 intron variant T/C snv 0.85 0.010 1.000 1 2012 2012
dbSNP: rs10754187
rs10754187
KCNT2
2 1.000 0.040 1 196447122 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10754196
rs10754196
KCNT2
1 1.000 0.040 1 196601576 intron variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs10754198
rs10754198
KCNT2
1 1.000 0.040 1 196604375 intron variant A/T snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs10754199
rs10754199
CFH
2 1.000 0.040 1 196701709 intron variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10754206
rs10754206 		1 1.000 0.040 1 196851794 intron variant T/G snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs10781182
rs10781182 		4 0.851 0.040 9 74002804 intergenic variant T/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs10788284
rs10788284
PLEKHA1
1 1.000 0.040 10 122390401 intron variant T/C snv 0.55 0.700 1.000 1 2013 2013