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: rs141322087
rs141322087
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
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
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
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
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
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
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
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
Small for gestational age (disorder)
0.700 0
dbSNP: rs141322087
rs141322087
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
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
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
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
dbSNP: rs141322087
rs141322087
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