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: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs112000638
rs112000638 		2 0.925 0.160 11 131359434 intergenic variant T/C snv 8.7E-03 0.010 1.000 1 2014 2014
dbSNP: rs13119914
rs13119914 		2 0.925 0.160 4 177053703 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3764261
rs3764261 		26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs699946
rs699946 		2 0.925 0.160 6 43764932 regulatory region variant A/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs7624556
rs7624556 		2 0.925 0.160 3 146965885 intron variant G/A snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs61941274
rs61941274
ACAD10
5 0.827 0.160 12 111694806 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs267606640
rs267606640
AGL
5 0.882 0.120 1 99913557 stop gained G/A snv 5.6E-05 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.100 1.000 14 2007 2018
dbSNP: rs10490923
rs10490923
ARMS2 ; LOC105378525
2 0.925 0.160 10 122454735 missense variant G/A snv 0.11 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs9391734
rs9391734
ATF6B ; FKBPL
6 0.882 0.160 6 32130206 5 prime UTR variant G/A snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs547154
rs547154
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.160 6 31943161 intron variant G/T snv 0.12 0.020 1.000 2 2012 2013
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.040 0.750 4 2009 2020
dbSNP: rs10411506
rs10411506
C3
2 0.925 0.160 19 6710937 non coding transcript exon variant G/A snv 0.17 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1047286
rs1047286
C3
2 0.925 0.160 19 6713251 missense variant G/A;C snv 0.14; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs163913
rs163913
C3
2 0.925 0.160 19 6722624 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2230205
rs2230205
C3
3 0.882 0.200 19 6709693 synonymous variant C/T snv 0.17 0.14 0.010 1.000 1 2009 2009
dbSNP: rs2250656
rs2250656
C3
4 0.882 0.160 19 6718523 intron variant T/C snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs339392
rs339392
C3
2 0.925 0.160 19 6722011 intron variant G/T snv 0.79 0.010 1.000 1 2009 2009
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: rs4151667
rs4151667
CFB ; CYP21A2
9 0.790 0.320 6 31946247 missense variant T/A snv 3.9E-02 3.4E-02 0.020 1.000 2 2009 2012
dbSNP: rs641153
rs641153
CFB ; CYP21A2
7 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.020 1.000 2 2009 2012
dbSNP: rs760070
rs760070
CFB ; CYP21A2 ; NELFE
3 0.882 0.280 6 31952179 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.100 0.889 27 2006 2019