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: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2010 2010
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2010 2010
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs1006994885
rs1006994885
ABCC6
5 1.000 0.160 16 16150577 splice donor variant C/A;G snv 0.700 0
dbSNP: rs72664239
rs72664239
ABCC6
6 0.925 0.200 16 16150646 frameshift variant C/- delins 0.700 0
dbSNP: rs1448934731
rs1448934731
ABCC6
4 1.000 0.160 16 16150727 frameshift variant C/- delins 7.0E-06 0.700 0
dbSNP: rs63751241
rs63751241
ABCC6
12 0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs66913554
rs66913554
ABCC6
7 0.882 0.240 16 16154644 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs72664237
rs72664237
ABCC6
7 1.000 0.160 16 16154732 frameshift variant G/- del 2.8E-05 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: rs63750622
rs63750622
ABCC6
9 0.925 0.200 16 16154898 missense variant C/A;G;T snv 4.1E-06; 4.1E-06; 1.6E-05 0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 0.700 0
dbSNP: rs63750759
rs63750759
ABCC6
11 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.700 0
dbSNP: rs72664236
rs72664236
ABCC6
5 0.925 0.200 16 16155002 frameshift variant C/- delins 0.700 0
dbSNP: rs63750410
rs63750410
ABCC6
9 0.882 0.240 16 16155007 missense variant C/G;T snv 6.0E-06; 1.2E-05 0.700 0
dbSNP: rs63749856
rs63749856
ABCC6
11 0.851 0.200 16 16155010 missense variant C/T snv 4.8E-05 2.8E-05 0.700 0
dbSNP: rs1555507893
rs1555507893
ABCC6
5 0.925 0.200 16 16157675 frameshift variant -/GGAT delins 0.700 0
dbSNP: rs1311228469
rs1311228469
ABCC6
4 1.000 0.160 16 16157755 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs72664233
rs72664233
ABCC6
10 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
dbSNP: rs63750273
rs63750273
ABCC6
9 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
dbSNP: rs63749796
rs63749796
ABCC6
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs63750125
rs63750125
ABCC6
4 1.000 0.160 16 16159541 missense variant G/T snv 0.700 0
dbSNP: rs63751001
rs63751001
ABCC6
13 0.790 0.240 16 16159555 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs63750457
rs63750457
ABCC6
8 0.925 0.200 16 16163008 missense variant C/T snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs72653744
rs72653744
ABCC6
14 0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04 0.700 0