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: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0232180
Disease: Cardiac shunt
Cardiac shunt 		0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.700 0
dbSNP: rs137852673
rs137852673
ABCC8
0.851 0.120 11 17395915 missense variant G/A;T snv 5.0E-06; 2.0E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 0
dbSNP: rs137852673
rs137852673
ABCC8
0.851 0.120 11 17395915 missense variant G/A;T snv 5.0E-06; 2.0E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs137852674
rs137852674
ABCC8
0.925 0.120 11 17430887 missense variant G/C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 0
dbSNP: rs139328569
rs139328569
ABCC8
1.000 0.120 11 17430839 stop gained G/A snv 1.6E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs1395224084
rs1395224084
ABCC8
1.000 0.120 11 17476966 non coding transcript exon variant G/A;C snv 7.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0232180
Disease: Cardiac shunt
Cardiac shunt 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0