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: rs1564977373
rs1564977373
ABCC8
2 0.925 0.120 11 17461710 stop gained C/T snv 0.700 1.000 2 2013 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: rs786204542
rs786204542
ABCC8
1 1.000 0.120 11 17406924 frameshift variant GGT/CAGTTCCTGGCTG delins 0.700 1.000 1 2007 2007
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: rs786204695
rs786204695
ABCC8
1 1.000 0.120 11 17470224 splice acceptor variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs786204717
rs786204717
ABCC8
1 1.000 0.120 11 17427144 frameshift variant TCAG/- delins 0.700 1.000 1 2010 2010
dbSNP: rs104894236
rs104894236
KCNJ11
1 1.000 0.120 11 17388056 stop gained G/A;T snv 1.2E-05 0.700 0
dbSNP: rs1337406718
rs1337406718
KCNJ11
3 0.882 0.160 11 17387027 frameshift variant -/A delins 0.700 0
dbSNP: rs1343400778
rs1343400778
KCNJ11
1 1.000 0.120 11 17387927 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs149331388
rs149331388
ABCC8
1 1.000 0.120 11 17396984 missense variant C/T snv 4.0E-06 2.8E-05 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: rs1564890766
rs1564890766
ABCC8
1 1.000 0.120 11 17405547 missense variant G/C snv 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: rs587783669
rs587783669
KCNJ11
4 0.882 0.160 11 17387594 stop gained G/C;T snv 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: 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: rs752507753
rs752507753
KCNJ11
1 1.000 0.120 11 17388013 missense variant G/A snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs766891274
rs766891274
KCNJ11
1 1.000 0.120 11 17387686 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs780957825
rs780957825
KCNJ11
5 0.827 0.160 11 17387211 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs797045637
rs797045637
KCNJ11
1 1.000 0.120 11 17387226 missense variant C/A;G snv 0.700 0
dbSNP: rs879253757
rs879253757
KCNJ11
1 1.000 0.120 11 17387938 stop gained G/A snv 4.0E-06 0.700 0