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: rs72653788
rs72653788
ABCC6
8 1.000 0.160 16 16178935 missense variant G/A snv 3.2E-05 5.6E-05 0.700 0
dbSNP: rs72653790
rs72653790
ABCC6
3 1.000 0.160 16 16178884 missense variant C/T snv 0.700 0
dbSNP: rs72653801
rs72653801
ABCC6
5 1.000 0.160 16 16169810 missense variant G/A;T snv 5.7E-06 0.700 0
dbSNP: rs72657692
rs72657692
ABCC6
10 0.851 0.280 16 16169667 missense variant C/G;T snv 4.1E-06; 2.5E-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: 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: rs72664205
rs72664205
ABCC6
5 1.000 0.160 16 16203408 splice donor variant A/- del 0.700 0
dbSNP: rs72664208
rs72664208
ABCC6
7 0.882 0.240 16 16182799 splice region variant C/T snv 7.0E-06 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: rs72664216
rs72664216
ABCC6
4 1.000 0.160 16 16203469 frameshift variant -/A delins 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: rs72664233
rs72664233
ABCC6
10 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
dbSNP: rs72664236
rs72664236
ABCC6
5 0.925 0.200 16 16155002 frameshift variant C/- delins 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: rs72664239
rs72664239
ABCC6
6 0.925 0.200 16 16150646 frameshift variant C/- delins 0.700 0
dbSNP: rs74315110
rs74315110
ABCC6
5 0.925 0.200 16 16221681 inframe deletion TAGCCCCGG/- delins 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: rs78678589
rs78678589
ABCC6
8 0.925 0.160 16 16203457 missense variant G/C;T snv 1.6E-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