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: rs10490924
rs10490924
12 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.770 0.857 8 2009 2016
dbSNP: rs1061170
rs1061170
CFH
53 0.575 0.607 1 196690107 missense variant C/T snp 0.68 0.63 0.720 1.000 3 2006 2012
dbSNP: rs2230199
rs2230199
C3
4 0.878 0.036 19 6718376 missense variant G/C,T snp 0.15 0.14 0.700 2 2012 2016
dbSNP: rs10033900
rs10033900
CFI
4 0.846 0.036 4 109737911 intron variant T/C snp 0.52 0.700 1 2016 2016
dbSNP: rs10781182
rs10781182
3 0.878 0.036 9 74002804 intergenic variant T/G snp 0.55 0.700 1 2016 2016
dbSNP: rs10922109
rs10922109
CFH
4 0.846 0.071 1 196735502 intron variant C/A snp 0.44 0.700 1 2016 2016
dbSNP: rs11080055
rs11080055
3 0.878 0.036 17 28322698 intron variant A/C snp 0.53 0.700 1 2016 2016
dbSNP: rs114092250
rs114092250
3 0.878 0.036 5 35494346 G/A,T snp 2.7E-02 0.700 1 2016 2016
dbSNP: rs1142
rs1142
3 0.878 0.036 7 105115879 intron variant C/T snp 0.31; 3.2E-05 0.700 1 2016 2016
dbSNP: rs11884770
rs11884770
3 0.878 0.036 2 227222204 intron variant T/A,C snp 0.65 0.700 1 2016 2016
dbSNP: rs12019136
rs12019136
3 0.878 0.036 19 5835666 intron variant G/A snp 0.11 0.700 1 2016 2016
dbSNP: rs121913059
rs121913059
CFH
11 0.744 0.214 1 196747245 missense variant C/T snp 1.4E-04 1.6E-04 0.700 1 2016 2016
dbSNP: rs12357257
rs12357257
3 0.878 0.036 10 24710664 intron variant G/A snp 0.17 0.700 1 2016 2016
dbSNP: rs13278062
rs13278062
3 0.878 0.036 8 23225458 non coding transcript exon variant G/A,C,T snp 0.41 0.700 1 2016 2016
dbSNP: rs140647181
rs140647181
3 0.878 0.036 3 99461824 T/C snp 1.5E-02 0.700 1 2016 2016
dbSNP: rs141853578
rs141853578
CFI
5 0.846 0.036 4 109764664 missense variant C/T snp 4.2E-04 4.5E-04 0.700 1 2016 2016
dbSNP: rs142450006
rs142450006
3 0.878 0.036 20 45986353 TTTTC/T in-del 0.700 1 2016 2016
dbSNP: rs147859257
rs147859257
C3
4 0.846 0.036 19 6718135 missense variant T/G snp 2.8E-03 2.0E-03 0.700 1 2016 2016
dbSNP: rs148553336
rs148553336
3 0.878 0.036 1 196644043 T/C snp 7.6E-03 0.700 1 2016 2016
dbSNP: rs1626340
rs1626340
5 0.821 0.107 9 99161090 G/A,T snp 0.25 0.700 1 2016 2016
dbSNP: rs17231506
rs17231506
8 0.878 0.036 16 56960616 intergenic variant C/G,T snp 0.28 0.26 0.700 1 2016 2016
dbSNP: rs1789110
rs1789110
2 0.923 0.036 18 77147088 regulatory region variant C/A snp 0.62 0.700 1 2012 2012
dbSNP: rs181705462
rs181705462
3 0.878 0.036 6 31979250 intron variant G/C,T snp 0.700 1 2016 2016
dbSNP: rs187328863
rs187328863
3 0.878 0.036 1 196411028 intron variant C/T snp 1.4E-02 0.700 1 2016 2016
dbSNP: rs191281603
rs191281603
3 0.878 0.036 1 196989521 intron variant C/G snp 4.1E-03 0.700 1 2016 2016