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: rs151344623
rs151344623
ABCC8
0.882 0.120 11 17397055 missense variant C/G;T snv 3.3E-04
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 16 1995 2014
dbSNP: rs201682634
rs201682634
ABCC8
1.000 0.120 11 17474956 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 11 1996 2015
dbSNP: rs541269678
rs541269678
ABCC8
0.925 0.120 11 17407417 stop gained G/A snv 1.6E-05 7.0E-06
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 11 1998 2014
dbSNP: rs28938469
rs28938469
ABCC8
0.925 0.160 11 17395659 missense variant G/A snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 10 1996 2015
dbSNP: rs139964066
rs139964066
ABCC8
0.925 0.120 11 17402671 missense variant G/A snv 5.6E-05 3.5E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 9 1996 2016
dbSNP: rs72559716
rs72559716
ABCC8
0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 9 1996 2018
dbSNP: rs367850779
rs367850779
ABCC8
0.925 0.120 11 17402670 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 8 1998 2010
dbSNP: rs72559716
rs72559716
ABCC8
0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 8 2000 2010
dbSNP: rs72559716
rs72559716
ABCC8
0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.700 1.000 7 2005 2013
dbSNP: rs797045213
rs797045213
ABCC8
1.000 0.120 11 17463454 missense variant T/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 7 1998 2016
dbSNP: rs139964066
rs139964066
ABCC8
0.925 0.120 11 17402671 missense variant G/A snv 5.6E-05 3.5E-05
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.700 1.000 6 2004 2015
dbSNP: rs200670692
rs200670692
ABCC8
0.925 0.120 11 17476715 missense variant A/T snv 5.8E-05 3.5E-05
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.700 1.000 6 2006 2016
dbSNP: rs200670692
rs200670692
ABCC8
0.925 0.120 11 17476715 missense variant A/T snv 5.8E-05 3.5E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 6 1996 2016
dbSNP: rs28936371
rs28936371
ABCC8
0.925 0.120 11 17394334 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 6 1976 2011
dbSNP: rs72559715
rs72559715
ABCC8
0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 6 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: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 6 1996 2016
dbSNP: rs746480424
rs746480424
ABCC8
1.000 0.120 11 17394333 missense variant C/A;T snv 8.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 6 2003 2016
dbSNP: rs746714109
rs746714109
ABCC8
1.000 0.120 11 17427963 non coding transcript exon variant C/T snv 2.0E-05 3.5E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 6 2005 2016
dbSNP: rs863225280
rs863225280
ABCC8
0.925 0.120 11 17461722 missense variant C/T snv
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		0.700 1.000 6 2004 2013
dbSNP: rs1057516281
rs1057516281
ABCC8
0.925 0.120 11 17398344 stop gained G/A snv 1.4E-05
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 5 2006 2013
dbSNP: rs1057516281
rs1057516281
ABCC8
0.925 0.120 11 17398344 stop gained G/A snv 1.4E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 5 2006 2014
dbSNP: rs137852676
rs137852676
ABCC8
0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 5 2004 2012
dbSNP: rs1446306735
rs1446306735
ABCC8
0.882 0.120 11 17395664 missense variant C/A;T snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.800 1.000 5 1996 2015
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