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: 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: 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: rs1192373126
rs1192373126
ABCC6
3 1.000 0.160 16 16178965 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1297171898
rs1297171898
ABCC6
5 1.000 0.160 16 16157662 splice region variant TCTCTCCT/- delins 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: rs1438851867
rs1438851867
ABCC6
2 1.000 0.160 16 16182931 splice acceptor variant C/G;T snv 4.0E-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: rs1555507903
rs1555507903
ABCC6
4 1.000 0.160 16 16157716 frameshift variant -/GTCGGTATCTTAG delins 0.700 0
dbSNP: rs1555507927
rs1555507927
ABCC6
4 1.000 0.160 16 16157769 frameshift variant -/G ins 0.700 0
dbSNP: rs1555508604
rs1555508604
ABCC6
5 0.925 0.200 16 16161437 splice donor variant C/T snv 0.700 0
dbSNP: rs1555512484
rs1555512484
ABCC6
5 1.000 0.160 16 16178955 missense variant A/G snv 0.700 0
dbSNP: rs1555513073
rs1555513073
ABCC6
3 1.000 0.160 16 16182429 missense variant T/G snv 0.700 0
dbSNP: rs1555514467
rs1555514467
ABCC6
6 1.000 0.160 16 16188897 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555522983
rs1555522983
ABCC6
4 1.000 0.160 16 16219833 frameshift variant -/C delins 0.700 0
dbSNP: rs28939701
rs28939701
ABCC6
12 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-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: rs60791294
rs60791294
ABCC6
11 0.882 0.280 16 16163086 missense variant C/G;T snv 7.6E-05 0.700 0
dbSNP: rs63749794
rs63749794
ABCC6
7 0.925 0.160 16 16163159 missense variant G/A snv 9.2E-05 4.2E-05 0.700 0
dbSNP: rs63749796
rs63749796
ABCC6
9 0.925 0.200 16 16159505 missense variant C/G snv 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: rs63749998
rs63749998
ABCC6
5 1.000 0.160 16 16163119 missense variant A/G snv 1.4E-05 0.700 0
dbSNP: rs63750125
rs63750125
ABCC6
4 1.000 0.160 16 16159541 missense variant G/T snv 0.700 0
dbSNP: rs63750273
rs63750273
ABCC6
9 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 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: rs63750414
rs63750414
ABCC6
6 0.925 0.200 16 16154910 missense variant A/G;T snv 0.700 0