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: 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: rs1554901679
rs1554901679
KCNJ11
1 1.000 0.120 11 17387295 missense variant G/A snv 0.700 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: rs577757932
rs577757932
KCNJ11
1 1.000 0.120 11 17387480 missense variant G/T snv 0.700 1.000 12 1995 2009
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs570388861
rs570388861
ABCC8
1 1.000 0.120 11 17408415 stop gained G/A;C snv 1.2E-05; 1.2E-05 0.700 1.000 3 2006 2014
dbSNP: rs786204542
rs786204542
ABCC8
1 1.000 0.120 11 17406924 frameshift variant GGT/CAGTTCCTGGCTG delins 0.700 1.000 1 2007 2007
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: 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: rs786204717
rs786204717
ABCC8
1 1.000 0.120 11 17427144 frameshift variant TCAG/- delins 0.700 1.000 1 2010 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
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: rs786204695
rs786204695
ABCC8
1 1.000 0.120 11 17470224 splice acceptor variant T/C snv 0.700 1.000 1 2013 2013