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: 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: 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: 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: 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: 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: rs1262517518
rs1262517518
ABCC8
1 1.000 0.120 11 17404629 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs1263082097
rs1263082097
ABCC8
1 1.000 0.120 11 17404620 frameshift variant CA/- delins 0.700 0
dbSNP: rs1320740169
rs1320740169
ABCC8
1 1.000 0.120 11 17393086 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs139328569
rs139328569
ABCC8
1 1.000 0.120 11 17430839 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs1395224084
rs1395224084
ABCC8
1 1.000 0.120 11 17476966 non coding transcript exon variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs1449198328
rs1449198328
ABCC8
1 1.000 0.120 11 17463436 splice donor variant A/T snv 4.3E-06 0.700 0