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: rs1555038029
rs1555038029
KMT2A
12 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.070 0.714 7 2001 2014
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.050 1.000 5 2009 2018
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.050 1.000 5 2008 2015
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.020 0.500 2 2007 2009
dbSNP: rs10468017
rs10468017
ALDH1A2
12 0.851 0.120 15 58386313 intron variant C/T snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs1049331
rs1049331
HTRA1 ; LOC105378525
5 0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23 0.010 1.000 1 2009 2009
dbSNP: rs10664316
rs10664316
ARMS2 ; LOC105378525
1 1.000 10 122456869 intron variant -/A;AC ins 7.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2015 2015
dbSNP: rs148060787
rs148060787
FTH1 ; BEST1
5 0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2001 2001
dbSNP: rs1800995
rs1800995
BEST1 ; LOC107984334
5 0.851 0.080 11 61955906 missense variant GC/AA mnv 0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142
BEST1 ; LOC107984334
5 0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05 0.010 1.000 1 2001 2001
dbSNP: rs1883025
rs1883025
ABCA1
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs2293870
rs2293870
HTRA1 ; LOC105378525
4 0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32 0.010 1.000 1 2009 2009
dbSNP: rs2672598
rs2672598
HTRA1 ; LOC105378525
4 0.851 0.160 10 122461166 non coding transcript exon variant T/C snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs281865275
rs281865275
BEST1 ; LOC107984334
5 0.851 0.080 11 61957397 missense variant C/G;T snv 8.0E-06; 2.8E-05 0.010 1.000 1 2001 2001
dbSNP: rs570618
rs570618
CFH
6 0.827 0.040 1 196687934 intron variant T/G snv 0.69 0.010 1.000 1 2018 2018
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 2014 2014