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: rs137852671
rs137852671
ABCC8
10 0.790 0.160 11 17394295 missense variant C/T snv 0.800 1.000 20 1996 2015
dbSNP: rs72559734
rs72559734
ABCC8
6 0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.800 1.000 25 1996 2016
dbSNP: rs193922402
rs193922402
ABCC8
6 0.807 0.160 11 17395611 stop gained G/A snv 1.3E-05 7.0E-06 0.700 0
dbSNP: rs72559722
rs72559722
ABCC8
6 0.807 0.160 11 17412716 stop gained G/A snv 6.1E-05 2.1E-05 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: rs1554948310
rs1554948310
ABCC8
5 0.827 0.160 11 17474884 splice donor variant A/G snv 0.700 0
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: rs1446306735
rs1446306735
ABCC8
3 0.882 0.120 11 17395664 missense variant C/A;T snv 0.800 1.000 23 1996 2015
dbSNP: rs137852676
rs137852676
ABCC8
3 0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 0.700 1.000 20 1996 2015
dbSNP: rs151344623
rs151344623
ABCC8
3 0.882 0.120 11 17397055 missense variant C/G;T snv 3.3E-04 0.700 1.000 16 1995 2014
dbSNP: rs139964066
rs139964066
ABCC8
2 0.925 0.120 11 17402671 missense variant G/A snv 5.6E-05 3.5E-05 0.800 1.000 29 1996 2016
dbSNP: rs28938469
rs28938469
ABCC8
3 0.925 0.160 11 17395659 missense variant G/A snv 0.800 1.000 27 1996 2015
dbSNP: rs200670692
rs200670692
ABCC8
2 0.925 0.120 11 17476715 missense variant A/T snv 5.8E-05 3.5E-05 0.800 1.000 26 1996 2016
dbSNP: rs137852672
rs137852672
ABCC8
2 0.925 0.120 11 17463457 splice donor variant A/T snv 1.5E-04 2.2E-04 0.800 1.000 20 1996 2015
dbSNP: rs28936370
rs28936370
ABCC8
2 0.925 0.120 11 17396980 missense variant C/G;T snv 8.0E-06; 2.0E-05 0.800 1.000 20 1996 2015
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: rs367850779
rs367850779
ABCC8
2 0.925 0.120 11 17402670 missense variant C/T snv 2.4E-05 7.0E-06 0.700 1.000 20 1996 2015
dbSNP: rs387906407
rs387906407
ABCC8
2 0.925 0.120 11 17395610 missense variant C/G;T snv 0.800 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: rs769279368
rs769279368
ABCC8
2 0.925 0.120 11 17395872 missense variant C/A;T snv 3.9E-05 0.700 1.000 20 1996 2015
dbSNP: rs151344624
rs151344624
ABCC8
2 0.925 0.120 11 17395888 inframe deletion AAG/- delins 0.700 1.000 8 1996 2011
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: rs863225280
rs863225280
ABCC8
2 0.925 0.120 11 17461722 missense variant C/T snv 0.700 1.000 5 2005 2013
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: rs1554923999
rs1554923999
ABCC8
2 0.925 0.120 11 17427048 splice donor variant C/A;T snv 0.700 1.000 2 2016 2017