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: rs1564980510
rs1564980510
ABCC8
1 1.000 0.120 11 17463504 frameshift variant -/A delins 0.700 0
dbSNP: rs797045212
rs797045212
ABCC8
1 1.000 0.120 11 17394274 inframe insertion -/AATGGAAGCCGTGGCCTCGTC delins 0.700 0
dbSNP: rs1554946437
rs1554946437
ABCC8
1 1.000 0.120 11 17470142 frameshift variant -/AG delins 0.700 0
dbSNP: rs1057516654
rs1057516654
ABCC8
1 1.000 0.120 11 17461609 frameshift variant -/C delins 0.700 0
dbSNP: rs1057517019
rs1057517019
ABCC8
1 1.000 0.120 11 17410526 frameshift variant -/G delins 0.700 0
dbSNP: rs1554905787
rs1554905787
ABCC8
1 1.000 0.120 11 17397008 frameshift variant -/G ins 0.700 0
dbSNP: rs768951263
rs768951263
ABCC8
1 1.000 0.120 11 17448563 stop gained -/GAGCTGATTGGTGTCGATGGCAACCAGATTA delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1057517199
rs1057517199
ABCC8
1 1.000 0.120 11 17461820 stop gained -/T delins 0.700 1.000 1 2006 2006
dbSNP: rs1057516665
rs1057516665
ABCC8
1 1.000 0.120 11 17442746 frameshift variant -/T ins 0.700 0
dbSNP: rs1554910621
rs1554910621
ABCC8
1 1.000 0.120 11 17404511 frameshift variant -/TGGAC delins 0.700 0
dbSNP: rs587783169
rs587783169
ABCC8
1 1.000 0.120 11 17404560 frameshift variant A/- del 0.700 1.000 3 2013 2014
dbSNP: rs1260178539
rs1260178539
ABCC8
1 1.000 0.120 11 17432241 frameshift variant A/- delins 6.3E-06 0.700 1.000 1 2013 2013
dbSNP: rs1554926539
rs1554926539
ABCC8
1 1.000 0.120 11 17430879 frameshift variant A/- del 0.700 0
dbSNP: rs1554904006
rs1554904006
ABCC8
1 1.000 0.120 11 17394264 splice donor variant A/C snv 0.700 0
dbSNP: rs1554949176
rs1554949176
ABCC8
1 1.000 0.120 11 17476627 splice donor variant A/C snv 0.700 0
dbSNP: rs797045208
rs797045208
ABCC8
1 1.000 0.120 11 17474937 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs886039877
rs886039877
ABCC8
1 1.000 0.120 11 17395904 missense variant A/C snv 0.700 0
dbSNP: rs971604271
rs971604271
ABCC8
1 1.000 0.120 11 17395207 missense variant A/C snv 7.0E-06 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: rs1554933168
rs1554933168
ABCC8
1 1.000 0.120 11 17442842 missense variant A/G snv 0.800 1.000 24 1996 2015
dbSNP: rs1554904565
rs1554904565
ABCC8
1 1.000 0.120 11 17395234 missense variant A/G snv 0.700 1.000 20 1996 2015
dbSNP: rs67254669
rs67254669
ABCC8
1 1.000 0.120 11 17448596 missense variant A/G snv 6.9E-04 7.2E-04 0.700 1.000 20 1996 2015
dbSNP: rs72559713
rs72559713
ABCC8
2 0.925 0.120 11 17393109 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 20 1996 2015
dbSNP: rs72559727
rs72559727
ABCC8
1 1.000 0.120 11 17442827 missense variant A/G snv 0.700 1.000 20 1996 2015
dbSNP: rs1057516589
rs1057516589
ABCC8
1 1.000 0.120 11 17416928 splice donor variant A/G snv 0.700 0