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: rs1008906426
rs1008906426
ABCC8
1 1.000 0.120 11 17394412 intron variant C/G;T snv 4.0E-06; 4.0E-06; 2.0E-05 0.700 1.000 2 2013 2013
dbSNP: rs1057516281
rs1057516281
ABCC8
2 0.925 0.120 11 17398344 stop gained G/A snv 1.4E-05 0.700 1.000 5 2006 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: rs1057516404
rs1057516404
ABCC8
1 1.000 0.120 11 17395230 stop gained C/T snv 0.700 0
dbSNP: rs1057516439
rs1057516439
ABCC8
1 1.000 0.120 11 17404544 stop gained G/C snv 0.700 0
dbSNP: rs1057516509
rs1057516509
ABCC8
1 1.000 0.120 11 17432203 splice donor variant C/G snv 7.0E-06 0.700 0
dbSNP: rs1057516542
rs1057516542
ABCC8
1 1.000 0.120 11 17427884 frameshift variant TG/- delins 0.700 0
dbSNP: rs1057516585
rs1057516585
ABCC8
1 1.000 0.120 11 17406942 stop gained C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1057516589
rs1057516589
ABCC8
1 1.000 0.120 11 17416928 splice donor variant A/G snv 0.700 0
dbSNP: rs1057516591
rs1057516591
ABCC8
1 1.000 0.120 11 17463602 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516654
rs1057516654
ABCC8
1 1.000 0.120 11 17461609 frameshift variant -/C delins 0.700 0
dbSNP: rs1057516655
rs1057516655
ABCC8
1 1.000 0.120 11 17394337 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516665
rs1057516665
ABCC8
1 1.000 0.120 11 17442746 frameshift variant -/T ins 0.700 0
dbSNP: rs1057516718
rs1057516718
ABCC8
1 1.000 0.120 11 17397014 stop gained G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1057516890
rs1057516890
ABCC8
1 1.000 0.120 11 17396962 frameshift variant TT/A delins 0.700 0
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: rs1057517019
rs1057517019
ABCC8
1 1.000 0.120 11 17410526 frameshift variant -/G delins 0.700 0
dbSNP: rs1057517050
rs1057517050
ABCC8
1 1.000 0.120 11 17396915 splice donor variant C/- delins 0.700 0
dbSNP: rs1057517128
rs1057517128
ABCC8
1 1.000 0.120 11 17443176 splice donor variant A/G snv 0.700 0
dbSNP: rs1057517139
rs1057517139
ABCC8
1 1.000 0.120 11 17461713 stop gained C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057517199
rs1057517199
ABCC8
1 1.000 0.120 11 17461820 stop gained -/T delins 0.700 1.000 1 2006 2006
dbSNP: rs1057517274
rs1057517274
ABCC8
1 1.000 0.120 11 17402659 splice donor variant A/T 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: 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