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
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C0232180
Disease: Cardiac shunt
Cardiac shunt
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C4317146
Disease: Acid reflux
Acid reflux
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C1860838
Disease: Large prominent ears
Large prominent ears
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C3552463
Disease: Very poor growth
Very poor growth
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.700 1 2015 2015
dbSNP: rs141322087
rs141322087
0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.700 0