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: rs72664225
rs72664225
ABCC6
1 1.000 0.160 16 16219945 splice acceptor variant ACC/- delins 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: rs957828732
rs957828732
ABCC6
1 1.000 0.160 16 16219899 missense variant C/T snv 2.1E-05 0.700 0
dbSNP: rs1555522997
rs1555522997
ABCC6
3 1.000 0.160 16 16219887 frameshift variant T/- delins 0.700 0
dbSNP: rs1002088882
rs1002088882
ABCC6
4 0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06 0.700 0
dbSNP: rs1555522983
rs1555522983
ABCC6
4 1.000 0.160 16 16219833 frameshift variant -/C delins 0.700 0
dbSNP: rs55778939
rs55778939
ABCC6
2 0.925 0.200 16 16219688 splice region variant C/A;T snv 3.6E-05; 2.6E-02 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: rs72653753
rs72653753
ABCC6
1 1.000 0.160 16 16219642 missense variant C/T snv 5.2E-05 2.1E-05 0.800 1.000 15 2000 2015
dbSNP: rs2606921
rs2606921
ABCC6
1 1.000 0.160 16 16219555 missense variant G/A snv 0.700 0
dbSNP: rs201766106
rs201766106
ABCC6 ; LOC105371100
5 1.000 0.160 16 16214428 missense variant G/A snv 4.6E-04 3.0E-04 0.700 0
dbSNP: rs72664281
rs72664281
ABCC6 ; LOC105371100
1 1.000 0.160 16 16214375 synonymous variant C/T snv 0.700 0
dbSNP: rs1474063386
rs1474063386
ABCC6 ; LOC105371100
1 1.000 0.160 16 16214329 stop gained G/A snv 1.3E-05 0.700 0
dbSNP: rs1187315015
rs1187315015
ABCC6 ; LOC105371100
4 1.000 0.160 16 16214323 splice donor variant C/T snv 2.6E-05 3.5E-05 0.700 0
dbSNP: rs72664290
rs72664290
ABCC6 ; LOC105371100
1 1.000 0.160 16 16214301 intron variant G/A snv 2.4E-03 9.9E-04 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: rs72657697
rs72657697
ABCC6 ; LOC105371100
1 1.000 0.160 16 16212228 missense variant C/T snv 0.700 0
dbSNP: rs72653754
rs72653754
ABCC6 ; LOC105371100
1 1.000 0.160 16 16212193 missense variant C/A snv 0.700 0
dbSNP: rs72653755
rs72653755
ABCC6 ; LOC105371100
1 1.000 0.160 16 16208846 missense variant C/T snv 0.700 0
dbSNP: rs1315925055
rs1315925055
ABCC6 ; LOC105371100
1 1.000 0.160 16 16208841 stop gained G/A;C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1343632105
rs1343632105
ABCC6 ; LOC105371100
1 1.000 0.160 16 16208812 frameshift variant -/AG delins 4.0E-06 0.700 0
dbSNP: rs763591743
rs763591743
ABCC6 ; LOC105371100
3 0.925 0.200 16 16208809 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs72650697
rs72650697
ABCC6 ; LOC105371100
4 1.000 0.160 16 16208798 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs1555520136
rs1555520136
ABCC6 ; LOC105371100
3 1.000 0.160 16 16208756 missense variant A/G snv 0.700 0
dbSNP: rs72657698
rs72657698
ABCC6 ; LOC105371100
1 1.000 0.160 16 16208729 missense variant T/C snv 4.3E-02 6.7E-02 0.700 0