Source: BEFREE ×
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: rs121907936
rs121907936
GAA
2 0.882 0.120 17 80107894 missense variant T/A;C snv 4.2E-05 5.6E-05 0.810 1.000 1 1991 2018
dbSNP: rs28940868
rs28940868
GAA
3 0.851 0.120 17 80112922 missense variant C/A;T snv 1.2E-04; 8.2E-06 0.810 1.000 1 1991 2017
dbSNP: rs757700700
rs757700700
GAA
2 0.925 0.120 17 80105872 missense variant C/T snv 2.1E-05 1.4E-05 0.810 1.000 1 2003 2014
dbSNP: rs776948121
rs776948121
GAA
2 0.925 0.120 17 80112928 missense variant C/G;T snv 1.2E-05 0.810 1.000 1 1994 2015
dbSNP: rs121907942
rs121907942
GAA
2 0.882 0.120 17 80111023 missense variant C/T snv 1.6E-05 2.1E-05 0.720 1.000 2 1991 2014
dbSNP: rs765718882
rs765718882
GAA
2 0.925 0.120 17 80118668 stop gained G/T snv 2.0E-05 7.0E-06 0.720 1.000 2 2006 2019
dbSNP: rs1800312
rs1800312
GAA
2 0.925 0.120 17 80117016 stop gained G/A;C snv 8.0E-06; 3.1E-04 0.710 1.000 1 1994 2017
dbSNP: rs1061170
rs1061170
CFH
69 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.100 0.889 27 2006 2019
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
11 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.100 0.875 16 2007 2017
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
15 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.100 1.000 14 2007 2018
dbSNP: rs800292
rs800292
CFH
29 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.100 1.000 10 2008 2018
dbSNP: rs2230199
rs2230199
C3
8 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.040 0.750 4 2009 2020
dbSNP: rs1410996
rs1410996
CFH
5 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.030 1.000 3 2008 2014
dbSNP: rs1800307
rs1800307
GAA
2 0.925 0.120 17 80112072 missense variant G/A snv 1.8E-02 7.1E-03 0.030 1.000 3 2008 2019
dbSNP: rs429608
rs429608
CYP21A2 ; SKIV2L
4 0.851 0.160 6 31962685 intron variant G/A snv 0.14 0.16 0.030 1.000 3 2013 2016
dbSNP: rs1136287
rs1136287
SERPINF1
7 0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 0.020 1.000 2 2009 2011
dbSNP: rs1800309
rs1800309
GAA
3 0.882 0.160 17 80113242 missense variant G/A;C snv 5.6E-02; 4.4E-06 0.020 1.000 2 2008 2011
dbSNP: rs2146323
rs2146323
VEGFA
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.020 < 0.001 2 2010 2016
dbSNP: rs2301995
rs2301995
ELN
3 0.882 0.160 7 74037810 non coding transcript exon variant G/A snv 0.11 0.020 1.000 2 2011 2011
dbSNP: rs4151667
rs4151667
CFB ; CYP21A2
8 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: 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: rs641153
rs641153
CFB ; CYP21A2
5 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: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 < 0.001 2 2013 2016
dbSNP: rs1024611
rs1024611 		59 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2018 2018
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