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: rs1554903370
rs1554903370
ABCC8
1 1.000 0.120 11 17393052 frameshift variant G/- delins 0.700 1.000 1 1999 1999
dbSNP: rs1320740169
rs1320740169
ABCC8
1 1.000 0.120 11 17393086 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs1221760584
rs1221760584
ABCC8
1 1.000 0.120 11 17393088 missense variant A/T snv 4.0E-06 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: rs1411638309
rs1411638309
ABCC8
1 1.000 0.120 11 17393125 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs1554904006
rs1554904006
ABCC8
1 1.000 0.120 11 17394264 splice donor variant A/C snv 0.700 0
dbSNP: rs797045212
rs797045212
ABCC8
1 1.000 0.120 11 17394274 inframe insertion -/AATGGAAGCCGTGGCCTCGTC delins 0.700 0
dbSNP: rs137852671
rs137852671
ABCC8
10 0.790 0.160 11 17394295 missense variant C/T snv 0.800 1.000 20 1996 2015
dbSNP: rs746480424
rs746480424
ABCC8
1 1.000 0.120 11 17394333 missense variant C/A;T snv 8.0E-06 0.700 1.000 6 2003 2016
dbSNP: rs28936371
rs28936371
ABCC8
2 0.925 0.120 11 17394334 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 20 1996 2015
dbSNP: rs1057516655
rs1057516655
ABCC8
1 1.000 0.120 11 17394337 frameshift variant C/- delins 0.700 0
dbSNP: rs193922405
rs193922405
ABCC8
2 0.925 0.160 11 17394360 missense variant C/A;T snv 0.700 0
dbSNP: rs1554904102
rs1554904102
ABCC8
1 1.000 0.120 11 17394361 missense variant C/T snv 0.700 0
dbSNP: rs72559715
rs72559715
ABCC8
5 0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 0.800 1.000 25 1996 2015
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: 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: rs72559716
rs72559716
ABCC8
3 0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06 0.800 1.000 28 1996 2018
dbSNP: rs971604271
rs971604271
ABCC8
1 1.000 0.120 11 17395207 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs72559717
rs72559717
ABCC8
1 1.000 0.120 11 17395214 missense variant C/T snv 7.0E-06 0.700 1.000 20 1996 2015
dbSNP: rs1554904554
rs1554904554
ABCC8
1 1.000 0.120 11 17395221 frameshift variant AGGGCCTCCCACAGTGTGCTATC/- delins 0.700 0
dbSNP: rs1057516404
rs1057516404
ABCC8
1 1.000 0.120 11 17395230 stop gained C/T snv 0.700 0
dbSNP: rs1554904565
rs1554904565
ABCC8
1 1.000 0.120 11 17395234 missense variant A/G snv 0.700 1.000 20 1996 2015
dbSNP: rs758844607
rs758844607
ABCC8
1 1.000 0.120 11 17395261 frameshift variant G/- delins 4.6E-06 7.0E-06 0.700 1.000 2 2010 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: rs387906407
rs387906407
ABCC8
2 0.925 0.120 11 17395610 missense variant C/G;T snv 0.800 1.000 20 1996 2015