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: rs72559722
rs72559722
ABCC8
6 0.807 0.160 11 17412716 stop gained G/A snv 6.1E-05 2.1E-05 0.700 1.000 5 1999 2013
dbSNP: rs193922402
rs193922402
ABCC8
6 0.807 0.160 11 17395611 stop gained G/A snv 1.3E-05 7.0E-06 0.700 1.000 3 2008 2013
dbSNP: rs267607196
rs267607196
KCNJ11
5 0.827 0.160 11 17387248 missense variant C/T snv 2.4E-05 2.8E-05 0.800 1.000 12 1995 2009
dbSNP: rs780957825
rs780957825
KCNJ11
5 0.827 0.160 11 17387211 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs74339576
rs74339576
KCNJ11
3 0.882 0.160 11 17387190 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.800 1.000 17 1995 2013
dbSNP: rs72559716
rs72559716
ABCC8
3 0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06 0.700 1.000 8 2000 2010
dbSNP: rs137852676
rs137852676
ABCC8
3 0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 0.700 1.000 5 2004 2012
dbSNP: rs954727530
rs954727530
KCNJ11
3 0.882 0.160 11 17387992 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2003 2016
dbSNP: rs1371185696
rs1371185696
KCNJ11
3 0.882 0.160 11 17387532 missense variant G/A snv 7.0E-06 0.700 1.000 3 2001 2011
dbSNP: rs1337406718
rs1337406718
KCNJ11
3 0.882 0.160 11 17387027 frameshift variant -/A delins 0.700 0
dbSNP: rs151344623
rs151344623
ABCC8
3 0.882 0.120 11 17397055 missense variant C/G;T snv 3.3E-04 0.700 0
dbSNP: rs1554901690
rs1554901690
KCNJ11
3 0.882 0.160 11 17387320 frameshift variant -/GATGATC delins 0.700 0
dbSNP: rs1554901718
rs1554901718
KCNJ11
3 0.882 0.160 11 17387373 frameshift variant -/T delins 0.700 0
dbSNP: rs1554901829
rs1554901829
KCNJ11
3 0.882 0.160 11 17387726 frameshift variant AAGG/- delins 0.700 0
dbSNP: rs1554901854
rs1554901854
KCNJ11
3 0.882 0.160 11 17387801 frameshift variant -/T delins 0.700 0
dbSNP: rs587783669
rs587783669
KCNJ11
4 0.882 0.160 11 17387594 stop gained G/C;T snv 0.700 0
dbSNP: rs141145502
rs141145502
KCNJ11
2 0.925 0.120 11 17387991 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 12 1995 2009
dbSNP: rs541269678
rs541269678
ABCC8
2 0.925 0.120 11 17407417 stop gained G/A snv 1.6E-05 7.0E-06 0.700 1.000 11 1998 2014
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 8 1998 2010
dbSNP: rs28936371
rs28936371
ABCC8
2 0.925 0.120 11 17394334 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 6 1976 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 2013
dbSNP: rs72559713
rs72559713
ABCC8
2 0.925 0.120 11 17393109 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 5 1999 2010
dbSNP: rs1554923999
rs1554923999
ABCC8
2 0.925 0.120 11 17427048 splice donor variant C/A;T snv 0.700 1.000 2 2013 2016
dbSNP: rs1564977373
rs1564977373
ABCC8
2 0.925 0.120 11 17461710 stop gained C/T snv 0.700 1.000 2 2013 2014
dbSNP: rs750414160
rs750414160
KCNJ11
2 0.925 0.120 11 17387224 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.700 0