Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs372307320
rs372307320
ABCC8
1.000 0.120 11 17442849 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 5 1996 2017
dbSNP: rs72559713
rs72559713
ABCC8
0.925 0.120 11 17393109 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 5 1999 2010
dbSNP: rs72559722
rs72559722
ABCC8
0.807 0.160 11 17412716 stop gained G/A snv 6.1E-05 2.1E-05
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 5 1999 2013
dbSNP: rs751279984
rs751279984
ABCC8
1.000 0.120 11 17442774 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 5 2013 2016
dbSNP: rs863225280
rs863225280
ABCC8
0.925 0.120 11 17461722 missense variant C/T snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 5 2005 2013
dbSNP: rs151344623
rs151344623
ABCC8
0.882 0.120 11 17397055 missense variant C/G;T snv 3.3E-04
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.700 1.000 4 1995 2011
dbSNP: rs1554933168
rs1554933168
ABCC8
1.000 0.120 11 17442842 missense variant A/G snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 4 1996 2015
dbSNP: rs72559734
rs72559734
ABCC8
0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.700 1.000 4 1998 2013
dbSNP: rs750586210
rs750586210
ABCC8
1.000 0.120 11 17453117 splice donor variant A/G snv 2.8E-05 1.4E-05
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 4 2005 2014
dbSNP: rs761749884
rs761749884
ABCC8
1.000 0.120 11 17470182 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 4 1996 2015
dbSNP: rs764613146
rs764613146
ABCC8
1.000 0.120 11 17428609 frameshift variant G/-;GG delins
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 4 2013 2014
dbSNP: rs773306994
rs773306994
ABCC8
1.000 0.120 11 17442719 splice donor variant C/A;T snv 2.4E-05; 4.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 4 1998 2015
dbSNP: rs1057516317
rs1057516317
ABCC8
0.925 0.120 11 17402737 frameshift variant C/- delins 2.1E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 3 2004 2008
dbSNP: rs1564955779
rs1564955779
ABCC8
1.000 0.120 11 17448605 missense variant C/T snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 3 1998 2013
dbSNP: rs193922402
rs193922402
ABCC8
0.807 0.160 11 17395611 stop gained G/A snv 1.3E-05 7.0E-06
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 3 2008 2013
dbSNP: rs368114790
rs368114790
ABCC8
1.000 0.120 11 17442788 missense variant C/T snv 1.0E-04 1.1E-04
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 3 2011 2013
dbSNP: rs570388861
rs570388861
ABCC8
1.000 0.120 11 17408415 stop gained G/A;C snv 1.2E-05; 1.2E-05
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 3 2006 2014
dbSNP: rs587783169
rs587783169
ABCC8
1.000 0.120 11 17404560 frameshift variant A/- del
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 3 2013 2014
dbSNP: rs769518471
rs769518471
ABCC8
1.000 0.120 11 17407058 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 3 2011 2015
dbSNP: rs770664202
rs770664202
ABCC8
1.000 0.120 11 17463478 frameshift variant CCAT/- del
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 3 2006 2007
dbSNP: rs886041392
rs886041392
ABCC8
1.000 0.120 11 17406901 frameshift variant TTCCTGGCTGCAGGGGTCAG/- delins 8.0E-06 7.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 3 2001 2014
dbSNP: rs1008906426
rs1008906426
ABCC8
1.000 0.120 11 17394412 intron variant C/G;T snv 4.0E-06; 4.0E-06; 2.0E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 2 2013 2013
dbSNP: rs1057516718
rs1057516718
ABCC8
1.000 0.120 11 17397014 stop gained G/A snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 2 2013 2014
dbSNP: rs1382448285
rs1382448285
ABCC8
1.000 0.120 11 17410517 stop gained C/T snv 4.0E-06
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 2 2013 2014
dbSNP: rs151344624
rs151344624
ABCC8
0.925 0.120 11 17395888 inframe deletion AAG/- delins
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.700 1.000 2 1996 2011