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: rs146243018
rs146243018
GATA6
1 18 22200698 missense variant C/G snv 2.5E-04 1.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs370588269
rs370588269
GATA4
1 8 11756964 missense variant G/A snv 2.4E-05 7.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs1064794259
rs1064794259
LDLR ; MIR6886
2 1.000 0.080 19 11113615 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs4646156
rs4646156
ACE2
2 X 15578920 intron variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs770696696
rs770696696
LDLR ; MIR6886
2 1.000 0.080 19 11113738 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs199473620
rs199473620
SCN5A
2 1.000 0.080 3 38554372 stop gained C/A;T snv 0.700 0
dbSNP: rs1555514089
rs1555514089
ABCC6
4 0.925 0.200 16 16187213 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555520991
rs1555520991
ABCC6 ; LOC105371100
5 0.925 0.200 16 16212248 splice acceptor variant T/C snv 0.700 0
dbSNP: rs2856597
rs2856597
ABCC6
5 0.925 0.200 16 16219935 missense variant C/T snv 3.0E-04 0.700 0
dbSNP: rs72653784
rs72653784
ABCC6
5 1.000 0.160 16 16182562 missense variant C/A;T snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs1555512158
rs1555512158
ABCC6
6 0.925 0.200 16 16177554 missense variant C/G snv 0.700 0
dbSNP: rs1555514467
rs1555514467
ABCC6
6 1.000 0.160 16 16188897 frameshift variant AG/- delins 0.700 0
dbSNP: rs63750428
rs63750428
ABCC6
6 0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05 0.700 0
dbSNP: rs72653769
rs72653769
ABCC6
6 1.000 0.160 16 16190315 missense variant A/T snv 8.0E-06 0.700 0
dbSNP: rs72653777
rs72653777
ABCC6
6 1.000 0.160 16 16187193 missense variant G/A snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs72664203
rs72664203
ABCC6
6 1.000 0.160 16 16219948 splice acceptor variant C/G snv 0.700 0
dbSNP: rs72664239
rs72664239
ABCC6
6 0.925 0.200 16 16150646 frameshift variant C/- delins 0.700 0
dbSNP: rs749125777
rs749125777
ABCC6
6 1.000 0.160 16 16173287 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs769437554
rs769437554
ABCC6
6 0.925 0.200 16 16165784 inframe deletion AAG/- delins 1.2E-05 0.700 0
dbSNP: rs776513864
rs776513864
ABCC6
6 0.925 0.200 16 16178920 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs965791272
rs965791272
ABCC6
6 1.000 0.160 16 16155041 non coding transcript exon variant G/A;C;T snv 0.700 0
dbSNP: rs7667298
rs7667298
KDR
7 0.827 0.120 4 55125564 5 prime UTR variant T/C snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs1481200467
rs1481200467
ABCC6
7 0.925 0.200 16 16173393 stop gained G/C;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs63749794
rs63749794
ABCC6
7 0.925 0.160 16 16163159 missense variant G/A snv 9.2E-05 4.2E-05 0.700 0
dbSNP: rs63751111
rs63751111
ABCC6
7 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 0.700 0