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: rs121434382
rs121434382
HMCN1
1 0.925 0.040 1 186178506 missense variant A/G snv 7.3E-04 6.8E-04 0.050 1.000 5 2004 2007
dbSNP: rs141853578
rs141853578
CFI
1 0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 0.750 1.000 5 2013 2019
dbSNP: rs1467528955
rs1467528955
C2 ; CYP21A2
1 1.000 0.040 6 31933767 missense variant G/A snv 1.2E-05 7.0E-06 0.040 1.000 4 2006 2010
dbSNP: rs1045216
rs1045216
PLEKHA1
1 1.000 0.040 10 122429681 missense variant A/G snv 0.68 0.69 0.730 0.750 3 2013 2018
dbSNP: rs1800555
rs1800555
ABCA4
1 1.000 0.040 1 93998061 missense variant C/T snv 1.1E-02 1.0E-02 0.030 0.667 3 2000 2015
dbSNP: rs551397
rs551397
CFH
1 1.000 0.040 1 196672942 intron variant C/T snv 0.31 0.40 0.030 1.000 3 2008 2018
dbSNP: rs8017304
rs8017304
RAD51B
1 1.000 0.040 14 68318360 intron variant G/A snv 0.54 0.830 1.000 3 2013 2019
dbSNP: rs147859257
rs147859257
C3
1 0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03 0.720 1.000 2 2014 2018
dbSNP: rs2337395
rs2337395
UNG
1 1.000 0.040 12 109096844 upstream gene variant T/C snv 0.55 0.020 1.000 2 2012 2014
dbSNP: rs34882957
rs34882957
C9
1 0.925 0.040 5 39331792 missense variant G/A snv 5.2E-03 6.1E-03 0.020 1.000 2 2018 2018
dbSNP: rs3826945
rs3826945
CFD
1 1.000 0.040 19 862912 intron variant C/G;T snv 0.020 0.500 2 2011 2018
dbSNP: rs9542236
rs9542236
B3GLCT
1 1.000 0.040 13 31245188 intron variant T/C snv 0.34 0.820 0.667 2 2013 2019
dbSNP: rs9943922
rs9943922
FLT1
1 1.000 0.040 13 28420518 intron variant T/C snv 0.42 0.020 1.000 2 2016 2018
dbSNP: rs1005510
rs1005510
SERPING1
1 1.000 0.040 11 57599749 intron variant C/T snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs10272438
rs10272438
BBS9
1 1.000 0.040 7 33199222 intron variant A/G snv 0.19 0.010 < 0.001 1 2007 2007
dbSNP: rs1048118
rs1048118
CFP
1 1.000 0.040 X 47624401 synonymous variant G/A snv 0.22 0.23 0.010 < 0.001 1 2010 2010
dbSNP: rs10483810
rs10483810
RAD51B
1 1.000 0.040 14 68526257 intron variant G/T snv 6.7E-02 0.010 1.000 1 2013 2013
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 1 2007 2013
dbSNP: rs1064583
rs1064583
COL10A1 ; NT5DC1
1 0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 0.010 1.000 1 2019 2019
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: rs10922153
rs10922153
CFHR5
1 1.000 0.040 1 197009485 3 prime UTR variant T/G snv 0.38 0.710 1.000 1 2010 2013
dbSNP: rs1120638
rs1120638 		1 1.000 0.040 Y 3649707 intergenic variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1130459
rs1130459
TF ; INHCAP
1 1.000 0.040 3 133746439 5 prime UTR variant A/G snv 0.60 0.58 0.010 1.000 1 2013 2013