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: rs138195505
rs138195505
C2 ; CYP21A2
2 0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.010 1.000 1 2012 2012
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 2009 2009
dbSNP: rs547154
rs547154
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.160 6 31943161 intron variant G/T snv 0.12 0.050 1.000 5 2009 2015
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 2014
dbSNP: rs641153
rs641153
CFB ; CYP21A2
7 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.010 1.000 1 2009 2009
dbSNP: rs541862
rs541862
CFB ; CYP21A2
3 0.882 0.160 6 31949174 non coding transcript exon variant T/C snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs2072633
rs2072633
CFB ; CYP21A2 ; NELFE
6 0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs429608
rs429608
CYP21A2 ; SKIV2L
4 0.851 0.160 6 31962685 intron variant G/A snv 0.14 0.16 0.010 1.000 1 2014 2014
dbSNP: rs9621532
rs9621532
SYN3
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
9 0.776 0.160 21 42218908 intron variant G/A snv 0.14 0.030 1.000 3 2014 2018
dbSNP: rs225396
rs225396
ABCG1
2 0.925 0.040 21 42267244 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs833069
rs833069
VEGFA
5 0.851 0.200 6 43774842 non coding transcript exon variant T/C;G snv 0.020 1.000 2 2012 2015
dbSNP: rs943080
rs943080
LOC107986598
6 0.807 0.040 6 43858890 TF binding site variant C/T snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs4711751
rs4711751
LOC107986598
3 0.882 0.040 6 43860845 intergenic variant T/C snv 0.37 0.020 0.500 2 2014 2015
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 < 0.001 1 2013 2013
dbSNP: rs2274755
rs2274755
MMP9
5 0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15 0.010 1.000 1 2014 2014
dbSNP: rs867229
rs867229
FPR1
3 0.882 0.160 19 51745746 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1042229
rs1042229
FPR1
7 0.790 0.280 19 51746419 missense variant A/C;G snv 0.32; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs2070746
rs2070746
FPR1
3 0.882 0.040 19 51746449 synonymous variant G/T snv 0.34 0.30 0.010 1.000 1 2014 2014
dbSNP: rs78488639
rs78488639
FPR1
3 0.882 0.160 19 51746706 missense variant G/A;T snv 1.2E-05; 8.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs1713985
rs1713985
REST
4 0.882 0.040 4 56920284 intron variant G/T snv 0.92 0.010 < 0.001 1 2012 2012
dbSNP: rs2217332
rs2217332
HERPUD1
4 0.882 0.160 16 56935236 missense variant G/A snv 0.15 0.14 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 0.040 1.000 4 2013 2018
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.010 1.000 1 2013 2013
dbSNP: rs2303790
rs2303790
CETP
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.010 1.000 1 2018 2018