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: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.840 0.875 8 2010 2019
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: rs10191751
rs10191751 		1 1.000 0.040 2 12822189 intron variant A/G;T snv 0.68 0.700 1.000 1 2018 2018
dbSNP: rs1021636
rs1021636 		1 1.000 0.040 1 196876143 intron variant A/G snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.020 1.000 2 2016 2018
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: rs1033920857
rs1033920857
PROM1
3 0.882 0.040 4 15984309 missense variant T/A;C snv 4.1E-06 0.010 1.000 1 2017 2017
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: 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: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1042663
rs1042663
C2 ; CYP21A2 ; C2-AS1
3 0.925 0.160 6 31937353 synonymous variant G/A snv 9.7E-02 0.12 0.700 1.000 1 2012 2012
dbSNP: rs1045216
rs1045216
PLEKHA1
1 1.000 0.040 10 122429681 missense variant A/G snv 0.68 0.69 0.730 0.750 4 2013 2018
dbSNP: rs10468017
rs10468017
ALDH1A2
12 0.851 0.120 15 58386313 intron variant C/T snv 0.24 0.890 0.900 10 2010 2019
dbSNP: rs1047286
rs1047286
C3
2 0.925 0.160 19 6713251 missense variant G/A;C snv 0.14; 4.0E-06 0.050 0.800 5 2010 2015
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: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2011 2011
dbSNP: rs1048709
rs1048709
CFB ; CYP21A2
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.020 0.500 2 2009 2019
dbSNP: rs10490923
rs10490923
ARMS2 ; LOC105378525
2 0.925 0.160 10 122454735 missense variant G/A snv 0.11 9.2E-02 0.020 0.500 2 2012 2014
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.900 0.979 97 2006 2019
dbSNP: rs1049331
rs1049331
HTRA1 ; LOC105378525
5 0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23 0.020 1.000 2 2013 2015
dbSNP: rs10494745
rs10494745
CFHR4 ; LOC105371675
2 1.000 0.040 1 196918327 missense variant G/A snv 8.0E-02 7.4E-02 0.700 1.000 1 2013 2013
dbSNP: rs10510109
rs10510109 		1 1.000 0.040 10 122360941 intergenic variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10510110
rs10510110
PLEKHA1
2 0.925 0.120 10 122432914 3 prime UTR variant T/C snv 0.56 0.700 1.000 2 2013 2013
dbSNP: rs1051308
rs1051308
HMOX2 ; CDIP1
3 0.882 0.080 16 4510300 3 prime UTR variant G/A snv 0.54 0.010 1.000 1 2011 2011