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: rs72650700
rs72650700
ABCC6
12 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs72653706
rs72653706
ABCC6
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 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
dbSNP: rs72653761
rs72653761
ABCC6
7 0.925 0.200 16 16202033 missense variant G/A snv 5.2E-05 6.3E-05 0.700 0
dbSNP: rs72653762
rs72653762
ABCC6
13 0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03 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: rs72653772
rs72653772
ABCC6
16 0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 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: rs72653783
rs72653783
ABCC6
7 1.000 0.160 16 16182566 missense variant T/G snv 4.0E-06 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: rs72653787
rs72653787
ABCC6
9 0.925 0.200 16 16178950 missense variant C/T snv 3.6E-05 3.5E-05 0.700 0
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: rs72653794
rs72653794
ABCC6
9 0.882 0.280 16 16177622 missense variant C/T snv 2.4E-05 2.8E-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: 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: rs72664223
rs72664223
ABCC6
9 1.000 0.160 16 16221763 frameshift variant T/- del 4.1E-06 0.700 0
dbSNP: rs72664227
rs72664227
ABCC6
7 0.925 0.200 16 16182875 frameshift variant C/-;CC delins 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: 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: rs761433545
rs761433545
ABCC6
8 0.925 0.200 16 16187192 missense variant C/A;G;T snv 2.0E-05 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: rs78678589
rs78678589
ABCC6
8 0.925 0.160 16 16203457 missense variant G/C;T snv 1.6E-05 0.700 0