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: rs1555509485
rs1555509485
ABCC6
3 1.000 0.160 16 16165810 missense variant G/A snv 0.700 0
dbSNP: rs1555514895
rs1555514895
ABCC6
3 1.000 0.160 16 16190234 missense variant A/G snv 0.700 0
dbSNP: rs1555522997
rs1555522997
ABCC6
3 1.000 0.160 16 16219887 frameshift variant T/- delins 0.700 0
dbSNP: rs57794451
rs57794451
ABCC6
3 1.000 0.160 16 16178907 missense variant C/A;T snv 4.0E-06; 2.0E-04 0.700 0
dbSNP: rs59206042
rs59206042
ABCC6
3 1.000 0.160 16 16175918 missense variant G/A;T snv 2.4E-04 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: rs1002088882
rs1002088882
ABCC6
4 0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06 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: rs1311228469
rs1311228469
ABCC6
4 1.000 0.160 16 16157755 stop gained G/A snv 7.0E-06 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: rs1555507903
rs1555507903
ABCC6
4 1.000 0.160 16 16157716 frameshift variant -/GTCGGTATCTTAG delins 0.700 0
dbSNP: rs1555507925
rs1555507925
ABCC6
4 1.000 0.160 16 16157768 stop gained C/T snv 0.700 0
dbSNP: rs1555507927
rs1555507927
ABCC6
4 1.000 0.160 16 16157769 frameshift variant -/G ins 0.700 0
dbSNP: rs1555509477
rs1555509477
ABCC6
4 1.000 0.160 16 16165805 missense variant C/T snv 0.700 0
dbSNP: rs1555512419
rs1555512419
ABCC6
4 0.925 0.200 16 16178830 frameshift variant C/- delins 0.700 0
dbSNP: rs1555513222
rs1555513222
ABCC6
4 0.925 0.200 16 16182896 frameshift variant C/- delins 0.700 0
dbSNP: rs1555522983
rs1555522983
ABCC6
4 1.000 0.160 16 16219833 frameshift variant -/C delins 0.700 0
dbSNP: rs1555523535
rs1555523535
ABCC6
4 0.925 0.200 16 16221822 stop gained G/A snv 0.700 0
dbSNP: rs369518454
rs369518454
ABCC6
4 0.925 0.200 16 16165721 missense variant C/G;T snv 2.8E-05 0.700 0
dbSNP: rs63750473
rs63750473
ABCC6
4 1.000 0.160 16 16163101 missense variant C/G snv 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: rs72653705
rs72653705
ABCC6
4 0.925 0.200 16 16165841 stop gained G/A snv 2.8E-05 3.5E-05 0.700 0
dbSNP: rs72653746
rs72653746
ABCC6
4 0.925 0.200 16 16159508 stop gained G/A snv 1.4E-05 0.700 0