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: rs11200638
rs11200638
HTRA1 ; LOC105378525
11 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.900 0.900 49 2006 2019
dbSNP: rs547154
rs547154
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.160 6 31943161 intron variant G/T snv 0.12 0.100 1.000 14 2007 2018
dbSNP: rs1410996
rs1410996
CFH
5 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.900 0.929 12 2007 2019
dbSNP: rs10468017
rs10468017
ALDH1A2
2 0.851 0.120 15 58386313 intron variant C/T snv 0.24 0.890 0.900 9 2010 2019
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.090 0.889 9 2002 2019
dbSNP: rs2511989
rs2511989
SERPING1
3 0.882 0.160 11 57610852 intron variant C/T snv 0.39 0.070 0.714 7 2008 2015
dbSNP: rs3764261
rs3764261 		11 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.860 1.000 6 2010 2018
dbSNP: rs493258
rs493258
ALDH1A2
2 0.925 0.040 15 58395681 intron variant T/C snv 0.50 0.860 1.000 6 2010 2019
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.060 0.833 6 2009 2019
dbSNP: rs2010963
rs2010963
VEGFA
81 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.050 0.800 5 2009 2019
dbSNP: rs10033900
rs10033900
CFI
4 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.840 0.875 4 2010 2019
dbSNP: rs12678919
rs12678919 		2 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.040 0.750 4 2014 2019
dbSNP: rs1413711
rs1413711
VEGFA
3 0.882 0.200 6 43772941 intron variant T/A;C snv 0.040 1.000 4 2012 2014
dbSNP: rs1883025
rs1883025
ABCA1
4 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.740 0.600 4 2011 2018
dbSNP: rs3753394
rs3753394
CFH
3 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.040 1.000 4 2006 2019
dbSNP: rs3793917
rs3793917
HTRA1 ; LOC105378525
3 0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 0.840 0.833 4 2010 2013
dbSNP: rs61755792
rs61755792
PRPH2
9 0.763 0.160 6 42721821 missense variant G/A;C snv 0.040 1.000 4 1995 2014
dbSNP: rs943080
rs943080
LOC107986598
3 0.807 0.040 6 43858890 TF binding site variant C/T snv 0.61 0.840 1.000 4 2013 2019
dbSNP: rs111033578
rs111033578
MFRP ; C1QTNF5
5 0.827 0.200 11 119339574 missense variant G/C snv 0.030 1.000 3 2005 2018
dbSNP: rs13278062
rs13278062
TNFRSF10A ; LOC389641
8 0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv 0.830 1.000 3 2011 2019
dbSNP: rs1329428
rs1329428
CFH
6 0.807 0.160 1 196733680 intron variant C/T snv 0.44 0.830 1.000 3 2006 2019
dbSNP: rs2072633
rs2072633
CFB ; CYP21A2 ; NELFE
3 0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59 0.030 1.000 3 2009 2019
dbSNP: rs2301995
rs2301995
ELN
3 0.882 0.160 7 74037810 non coding transcript exon variant G/A snv 0.11 0.030 1.000 3 2011 2011
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.030 1.000 3 2013 2016
dbSNP: rs3087404
rs3087404
SMUG1 ; LOC105369777
3 0.925 0.080 12 54187830 5 prime UTR variant T/C snv 0.47 0.030 1.000 3 2012 2017