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: rs1555509477
rs1555509477
ABCC6
4 1.000 0.160 16 16165805 missense variant C/T snv 0.700 0
dbSNP: rs1555513085
rs1555513085
ABCC6
8 0.925 0.200 16 16182486 frameshift variant TCTC/- delins 0.700 0
dbSNP: rs1555520136
rs1555520136
ABCC6 ; LOC105371100
3 1.000 0.160 16 16208756 missense variant A/G 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: 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: 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: rs63750457
rs63750457
ABCC6
8 0.925 0.200 16 16163008 missense variant C/T snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs63750459
rs63750459
ABCC6
13 0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05 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: rs66492417
rs66492417
ABCC6
10 0.882 0.240 16 16178909 stop gained G/T snv 0.700 0
dbSNP: rs66864704
rs66864704
ABCC6
10 0.882 0.280 16 16188907 missense variant A/G snv 1.2E-04 3.6E-04 0.700 0
dbSNP: rs67470842
rs67470842
ABCC6
6 0.925 0.200 16 16182856 missense variant A/G snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs72650699
rs72650699
ABCC6
12 0.851 0.280 16 16202045 stop gained G/A snv 4.8E-05 1.8E-04 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: rs72653743
rs72653743
ABCC6
5 1.000 0.160 16 16163072 stop gained G/A snv 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: 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: rs72653780
rs72653780
ABCC6
5 1.000 0.160 16 16182887 missense variant C/A;T snv 8.0E-06; 1.2E-05 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: rs72664223
rs72664223
ABCC6
9 1.000 0.160 16 16221763 frameshift variant T/- del 4.1E-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: rs774648925
rs774648925
ABCC6
6 0.925 0.200 16 16190210 missense variant A/G snv 4.0E-06 0.700 0