Gene: ABCC6 ×
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: rs63750874
rs63750874
ABCC6
3 1.000 0.160 16 16150144 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs63751279
rs63751279
ABCC6
5 0.925 0.200 16 16150204 missense variant C/T snv 6.0E-05 4.2E-05 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: rs1333662666
rs1333662666
ABCC6
4 1.000 0.160 16 16150640 stop gained C/A;T snv 4.0E-06 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: rs1555506740
rs1555506740
ABCC6
4 1.000 0.160 16 16150774 splice acceptor variant T/G snv 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: rs63751111
rs63751111
ABCC6
7 1.000 0.160 16 16154873 missense variant C/G;T snv 8.1E-06 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: rs63750414
rs63750414
ABCC6
6 0.925 0.200 16 16154910 missense variant A/G;T snv 0.700 0
dbSNP: rs72653750
rs72653750
ABCC6
2 1.000 0.160 16 16154943 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs63751086
rs63751086
ABCC6
5 0.925 0.200 16 16154973 missense variant C/T snv 3.8E-05 1.1E-04 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: rs63751325
rs63751325
ABCC6
3 1.000 0.160 16 16155022 missense variant C/A;T snv 1.4E-04 0.700 0
dbSNP: rs72664213
rs72664213
ABCC6
4 1.000 0.160 16 16155036 splice region variant C/T snv 0.700 0
dbSNP: rs72664214
rs72664214
ABCC6
3 1.000 0.160 16 16155037 splice region variant C/G;T snv 5.2E-05 0.700 0
dbSNP: rs965791272
rs965791272
ABCC6
6 1.000 0.160 16 16155041 non coding transcript exon variant G/A;C;T snv 0.700 0
dbSNP: rs1297171898
rs1297171898
ABCC6
5 1.000 0.160 16 16157662 splice region variant TCTCTCCT/- delins 0.700 0
dbSNP: rs1555507893
rs1555507893
ABCC6
5 0.925 0.200 16 16157675 frameshift variant -/GGAT delins 0.700 0