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: rs764613146
rs764613146
ABCC8
1 1.000 0.120 11 17428609 frameshift variant G/-;GG delins 0.700 1.000 4 2013 2014
dbSNP: rs773306994
rs773306994
ABCC8
1 1.000 0.120 11 17442719 splice donor variant C/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 4 1998 2015
dbSNP: rs1564955779
rs1564955779
ABCC8
1 1.000 0.120 11 17448605 missense variant C/T snv 0.700 1.000 3 1998 2013
dbSNP: rs587783169
rs587783169
ABCC8
1 1.000 0.120 11 17404560 frameshift variant A/- del 0.700 1.000 3 2013 2014
dbSNP: rs770664202
rs770664202
ABCC8
1 1.000 0.120 11 17463478 frameshift variant CCAT/- del 0.700 1.000 3 2006 2007
dbSNP: rs1008906426
rs1008906426
ABCC8
1 1.000 0.120 11 17394412 intron variant C/G;T snv 4.0E-06; 4.0E-06; 2.0E-05 0.700 1.000 2 2013 2013
dbSNP: rs1057516718
rs1057516718
ABCC8
1 1.000 0.120 11 17397014 stop gained G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1554913069
rs1554913069
ABCC8
1 1.000 0.120 11 17407436 frameshift variant CTCT/- delins 0.700 1.000 2 2004 2013
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
dbSNP: rs1057516585
rs1057516585
ABCC8
1 1.000 0.120 11 17406942 stop gained C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1057517139
rs1057517139
ABCC8
1 1.000 0.120 11 17461713 stop gained C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057517199
rs1057517199
ABCC8
1 1.000 0.120 11 17461820 stop gained -/T delins 0.700 1.000 1 2006 2006
dbSNP: rs1260178539
rs1260178539
ABCC8
1 1.000 0.120 11 17432241 frameshift variant A/- delins 6.3E-06 0.700 1.000 1 2013 2013
dbSNP: rs1411638309
rs1411638309
ABCC8
1 1.000 0.120 11 17393125 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs1554903370
rs1554903370
ABCC8
1 1.000 0.120 11 17393052 frameshift variant G/- delins 0.700 1.000 1 1999 1999
dbSNP: rs1554904136
rs1554904136
ABCC8
1 1.000 0.120 11 17394401 splice acceptor variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1554906786
rs1554906786
ABCC8
1 1.000 0.120 11 17398338 splice donor variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1554924035
rs1554924035
ABCC8
1 1.000 0.120 11 17427069 frameshift variant T/- del 0.700 1.000 1 2013 2013
dbSNP: rs1554924540
rs1554924540
ABCC8
1 1.000 0.120 11 17427866 splice donor variant C/A;T snv 0.700 1.000 1 2004 2004
dbSNP: rs1554933565
rs1554933565
ABCC8
1 1.000 0.120 11 17443297 frameshift variant TC/- del 0.700 1.000 1 2006 2006
dbSNP: rs1554938866
rs1554938866
ABCC8
1 1.000 0.120 11 17453285 splice acceptor variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1554948445
rs1554948445
ABCC8
1 1.000 0.120 11 17475028 splice acceptor variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs576684889
rs576684889
ABCC8
1 1.000 0.120 11 17404670 splice acceptor variant C/T snv 4.3E-06 0.700 1.000 1 2013 2013
dbSNP: rs797045211
rs797045211
ABCC8
1 1.000 0.120 11 17396915 splice donor variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs886041391
rs886041391
ABCC8
1 1.000 0.120 11 17395277 splice acceptor variant T/C snv 1.5E-05 0.700 1.000 1 2013 2013