Gene: ABCC8 ×
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: rs797045212
rs797045212
ABCC8
1 1.000 0.120 11 17394274 inframe insertion -/AATGGAAGCCGTGGCCTCGTC delins 0.700 0
dbSNP: rs151344624
rs151344624
ABCC8
2 0.925 0.120 11 17395888 inframe deletion AAG/- delins 0.700 1.000 8 1996 2011
dbSNP: rs387906408
rs387906408
ABCC8
1 1.000 0.120 11 17395891 inframe deletion GGA/- delins 0.700 0
dbSNP: rs1554926465
rs1554926465
ABCC8
1 1.000 0.120 11 17430808 splice region variant CTCAC/- delins 0.700 0
dbSNP: rs1057517420
rs1057517420
ABCC8
2 0.925 0.120 11 17408518 splice acceptor variant C/G snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1554904136
rs1554904136
ABCC8
1 1.000 0.120 11 17394401 splice acceptor variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1554938866
rs1554938866
ABCC8
1 1.000 0.120 11 17453285 splice acceptor variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1554948445
rs1554948445
ABCC8
1 1.000 0.120 11 17475028 splice acceptor variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs576684889
rs576684889
ABCC8
1 1.000 0.120 11 17404670 splice acceptor variant C/T snv 4.3E-06 0.700 1.000 1 2013 2013
dbSNP: rs766431403
rs766431403
ABCC8
1 1.000 0.120 11 17397314 splice acceptor variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs886041391
rs886041391
ABCC8
1 1.000 0.120 11 17395277 splice acceptor variant T/C snv 1.5E-05 0.700 1.000 1 2013 2013
dbSNP: rs1057516946
rs1057516946
ABCC8
1 1.000 0.120 11 17442884 splice acceptor variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs1057517015
rs1057517015
ABCC8
1 1.000 0.120 11 17463606 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057517406
rs1057517406
ABCC8
1 1.000 0.120 11 17395931 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1167993548
rs1167993548
ABCC8
1 1.000 0.120 11 17448672 splice acceptor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1247430874
rs1247430874
ABCC8
1 1.000 0.120 11 17460677 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554904904
rs1554904904
ABCC8
1 1.000 0.120 11 17395626 splice acceptor variant AGGACGGGGTCCTGCAG/- delins 0.700 0
dbSNP: rs1554906449
rs1554906449
ABCC8
1 1.000 0.120 11 17397798 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554906450
rs1554906450
ABCC8
1 1.000 0.120 11 17397799 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554924630
rs1554924630
ABCC8
1 1.000 0.120 11 17427943 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1564905676
rs1564905676
ABCC8
1 1.000 0.120 11 17414611 splice acceptor variant C/T snv 0.700 0
dbSNP: rs797045207
rs797045207
ABCC8
1 1.000 0.120 11 17427155 splice acceptor variant C/T snv 0.700 0
dbSNP: rs764613146
rs764613146
ABCC8
1 1.000 0.120 11 17428609 frameshift variant G/-;GG delins 0.700 1.000 4 2013 2014
dbSNP: rs1057516317
rs1057516317
ABCC8
2 0.925 0.120 11 17402737 frameshift variant C/- delins 2.1E-05 0.700 1.000 3 2004 2008
dbSNP: rs587783169
rs587783169
ABCC8
1 1.000 0.120 11 17404560 frameshift variant A/- del 0.700 1.000 3 2013 2014