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: rs1554904136
rs1554904136
ABCC8
1.000 0.120 11 17394401 splice acceptor variant T/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 1 2015 2015
dbSNP: rs1554906786
rs1554906786
ABCC8
1.000 0.120 11 17398338 splice donor variant C/T snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 1 2013 2013
dbSNP: rs1554924540
rs1554924540
ABCC8
1.000 0.120 11 17427866 splice donor variant C/A;T snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 1 2004 2004
dbSNP: rs1554938866
rs1554938866
ABCC8
1.000 0.120 11 17453285 splice acceptor variant T/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 1 2013 2013
dbSNP: rs1554948445
rs1554948445
ABCC8
1.000 0.120 11 17475028 splice acceptor variant C/T snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 1 2013 2013
dbSNP: rs576684889
rs576684889
ABCC8
1.000 0.120 11 17404670 splice acceptor variant C/T snv 4.3E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 1 2013 2013
dbSNP: rs765090096
rs765090096
ABCC8
1.000 0.120 11 17442814 stop gained G/A;C snv 1.2E-05 3.5E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 1 2016 2016
dbSNP: rs766431403
rs766431403
ABCC8
1.000 0.120 11 17397314 splice acceptor variant C/T snv 1.6E-05 1.4E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 1 2013 2013
dbSNP: rs786204676
rs786204676
ABCC8
1.000 0.120 11 17427865 splice donor variant A/G snv 8.0E-06
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 1 2010 2010
dbSNP: rs786204695
rs786204695
ABCC8
1.000 0.120 11 17470224 splice acceptor variant T/C snv
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		0.700 1.000 1 2013 2013
dbSNP: rs797045211
rs797045211
ABCC8
1.000 0.120 11 17396915 splice donor variant C/T snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 1 2013 2013
dbSNP: rs886041391
rs886041391
ABCC8
1.000 0.120 11 17395277 splice acceptor variant T/C snv 1.5E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 1 2013 2013
dbSNP: rs1048095
rs1048095
ABCC8
1.000 0.080 11 17461731 missense variant A/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.810 1.000 0 2006 2007
dbSNP: rs1057516404
rs1057516404
ABCC8
1.000 0.120 11 17395230 stop gained C/T snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1057516439
rs1057516439
ABCC8
1.000 0.120 11 17404544 stop gained G/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1057516509
rs1057516509
ABCC8
1.000 0.120 11 17432203 splice donor variant C/G snv 7.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1057516589
rs1057516589
ABCC8
1.000 0.120 11 17416928 splice donor variant A/G snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1057516946
rs1057516946
ABCC8
1.000 0.120 11 17442884 splice acceptor variant T/A;G snv 4.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1057517015
rs1057517015
ABCC8
1.000 0.120 11 17463606 splice acceptor variant T/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1057517128
rs1057517128
ABCC8
1.000 0.120 11 17443176 splice donor variant A/G snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1057517274
rs1057517274
ABCC8
1.000 0.120 11 17402659 splice donor variant A/T snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1057517406
rs1057517406
ABCC8
1.000 0.120 11 17395931 splice acceptor variant C/A snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1167993548
rs1167993548
ABCC8
1.000 0.120 11 17448672 splice acceptor variant C/T snv 7.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1247430874
rs1247430874
ABCC8
1.000 0.120 11 17460677 splice acceptor variant C/T snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0