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: rs72664216
rs72664216
ABCC6
4 1.000 0.160 16 16203469 frameshift variant -/A delins 0.700 0
dbSNP: rs1555507893
rs1555507893
ABCC6
5 0.925 0.200 16 16157675 frameshift variant -/GGAT delins 0.700 0
dbSNP: rs72664205
rs72664205
ABCC6
5 1.000 0.160 16 16203408 splice donor variant A/- del 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: 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: rs1555512484
rs1555512484
ABCC6
5 1.000 0.160 16 16178955 missense variant A/G snv 0.700 0
dbSNP: rs66864704
rs66864704
ABCC6
10 0.882 0.280 16 16188907 missense variant A/G snv 1.2E-04 3.6E-04 0.700 0
dbSNP: rs72664204
rs72664204
ABCC6
9 0.925 0.200 16 16203407 splice donor variant AC/- delins 4.0E-06 2.1E-05 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: rs1555514927
rs1555514927
ABCC6
4 1.000 0.160 16 16190280 frameshift variant C/- delins 0.700 0
dbSNP: rs72664236
rs72664236
ABCC6
5 0.925 0.200 16 16155002 frameshift variant C/- delins 0.700 0
dbSNP: rs72664239
rs72664239
ABCC6
6 0.925 0.200 16 16150646 frameshift variant C/- delins 0.700 0
dbSNP: rs1555523841
rs1555523841
ABCC6
6 0.882 0.280 16 16223398 splice donor variant C/A snv 0.700 0
dbSNP: rs72664209
rs72664209
ABCC6
12 0.827 0.240 16 16173283 splice donor variant C/A snv 8.0E-06; 1.2E-04 1.7E-04 0.700 0
dbSNP: rs1006994885
rs1006994885
ABCC6
5 1.000 0.160 16 16150577 splice donor variant C/A;G snv 0.700 0
dbSNP: rs72653763
rs72653763
ABCC6
4 1.000 0.160 16 16202001 missense variant C/A;G snv 8.0E-06 0.700 0
dbSNP: rs28305
rs28305
AGXT2
1 5 35044193 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
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: rs67561842
rs67561842
ABCC6
6 0.925 0.160 16 16178919 missense variant C/A;G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs761433545
rs761433545
ABCC6
8 0.925 0.200 16 16187192 missense variant C/A;G;T snv 2.0E-05 0.700 0
dbSNP: rs114303883
rs114303883
ABCC6
8 1.000 0.160 16 16182534 stop gained C/A;T snv 9.1E-05 4.2E-05 0.700 0
dbSNP: rs72653780
rs72653780
ABCC6
5 1.000 0.160 16 16182887 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs879956688
rs879956688
ABCC6
5 1.000 0.160 16 16219655 stop gained C/A;T snv 1.8E-05; 7.8E-04 0.700 0
dbSNP: rs63749796
rs63749796
ABCC6
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs72664203
rs72664203
ABCC6
6 1.000 0.160 16 16219948 splice acceptor variant C/G snv 0.700 0