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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		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: 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: C4317146
Disease: Acid reflux
Acid reflux 		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: 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: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		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: C2243051
Disease: Large head (disorder)
Large head (disorder) 		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: 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
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