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: rs146405172
rs146405172
ABCC2
1 1.000 0.160 10 99811603 splice donor variant G/A snv 8.0E-04 7.6E-04 0.700 0
dbSNP: rs121909683
rs121909683
GGCX
2 0.925 0.160 2 85554269 missense variant C/T snv 4.8E-05 7.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs6504649
rs6504649
XYLT2
4 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 0.710 1.000 1 2006 2006
dbSNP: rs777846438
rs777846438
VEGFA
2 0.925 0.240 6 43780801 splice region variant C/T snv 4.4E-05 6.3E-05 0.010 1.000 1 2009 2009
dbSNP: rs1780329
rs1780329
ALPL
2 0.925 0.200 1 21576457 intron variant C/A snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2008 2008
dbSNP: rs3853814
rs3853814
ABCC6P1
1 1.000 0.160 16 18575053 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs61758388
rs61758388
XYLT1 ; LOC107987234
4 0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02 0.700 0
dbSNP: rs1555523872
rs1555523872
ABCC6
1 1.000 0.160 16 16223424 missense variant G/T snv 0.700 0
dbSNP: rs1555523855
rs1555523855
ABCC6
1 1.000 0.160 16 16223409 missense variant G/T snv 0.700 0
dbSNP: rs1555523841
rs1555523841
ABCC6
6 0.882 0.280 16 16223398 splice donor variant C/A snv 0.700 0
dbSNP: rs1555523540
rs1555523540
ABCC6
1 1.000 0.160 16 16221843 intron variant AAAGAGGACC/- delins 0.700 0
dbSNP: rs72657702
rs72657702
ABCC6
1 1.000 0.160 16 16221832 splice acceptor variant C/T snv 1.7E-05 1.4E-05 0.700 0
dbSNP: rs1555523535
rs1555523535
ABCC6
4 0.925 0.200 16 16221822 stop gained G/A snv 0.700 0
dbSNP: rs1235912910
rs1235912910
ABCC6
1 1.000 0.160 16 16221807 missense variant G/A snv 0.700 0
dbSNP: rs72664223
rs72664223
ABCC6
9 1.000 0.160 16 16221763 frameshift variant T/- del 4.1E-06 0.700 0
dbSNP: rs72653752
rs72653752
ABCC6
4 0.925 0.200 16 16221755 missense variant C/G snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs778544828
rs778544828
ABCC6
1 1.000 0.160 16 16221750 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs940803158
rs940803158
ABCC6
3 0.925 0.200 16 16221738 missense variant G/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1555523438
rs1555523438
ABCC6
1 1.000 0.160 16 16221687 frameshift variant CGGCC/- delins 0.700 0
dbSNP: rs72657696
rs72657696
ABCC6
1 1.000 0.160 16 16221686 missense variant C/T snv 0.700 0
dbSNP: rs74315110
rs74315110
ABCC6
5 0.925 0.200 16 16221681 inframe deletion TAGCCCCGG/- delins 0.700 0
dbSNP: rs777566074
rs777566074
ABCC6
1 1.000 0.160 16 16221677 missense variant C/T snv 6.3E-05 0.700 0
dbSNP: rs1555523429
rs1555523429
ABCC6
1 1.000 0.160 16 16221673 frameshift variant CATCCGGAGGTAGCCCC/- del 0.700 0
dbSNP: rs72664203
rs72664203
ABCC6
6 1.000 0.160 16 16219948 splice acceptor variant C/G snv 0.700 0