rs121909731, GLUD1

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hyperinsulinemic hypoglycemia, familial, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
11 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.800 1.000 7 1998 2016
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
Hyperammonemia
CUI: C0220994
Disease: Hyperammonemia
8 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
64 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016