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: rs1337406718
rs1337406718
KCNJ11
3 0.882 0.160 11 17387027 frameshift variant -/A delins 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: rs1554901854
rs1554901854
KCNJ11
3 0.882 0.160 11 17387801 frameshift variant -/T delins 0.700 0
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: rs750586210
rs750586210
ABCC8
1 1.000 0.120 11 17453117 splice donor variant A/G snv 2.8E-05 1.4E-05 0.700 1.000 4 2005 2014
dbSNP: rs28936678
rs28936678
KCNJ11
1 1.000 0.120 11 17387652 missense variant A/G snv 4.0E-06 0.700 1.000 1 1996 1996
dbSNP: rs786204676
rs786204676
ABCC8
1 1.000 0.120 11 17427865 splice donor variant A/G snv 8.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1554901829
rs1554901829
KCNJ11
3 0.882 0.160 11 17387726 frameshift variant AAGG/- delins 0.700 0
dbSNP: rs387906398
rs387906398
KCNJ11
1 1.000 0.120 11 17388225 5 prime UTR variant C/A snv 0.700 0
dbSNP: rs797045637
rs797045637
KCNJ11
1 1.000 0.120 11 17387226 missense variant C/A;G snv 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: 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: rs1479483693
rs1479483693
KCNJ11
1 1.000 0.120 11 17387685 missense variant C/A;T snv 4.0E-06 0.700 1.000 12 1995 2009
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: 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: 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
dbSNP: rs747719667
rs747719667
KCNJ11
1 1.000 0.120 11 17387891 missense variant C/G snv 2.8E-05 7.0E-06 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: rs1404429785
rs1404429785
KCNJ11
1 1.000 0.120 11 17387626 missense variant C/T snv 0.800 1.000 12 1995 2009
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: 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: 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: rs368114790
rs368114790
ABCC8
1 1.000 0.120 11 17442788 missense variant C/T snv 1.0E-04 1.1E-04 0.700 1.000 3 2011 2013
dbSNP: rs1382448285
rs1382448285
ABCC8
1 1.000 0.120 11 17410517 stop gained C/T snv 4.0E-06 0.700 1.000 2 2013 2014