rs587777057, GNAO1

N. diseases: 8
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
CUI: C3809606
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
13 0.827 0.040 16 56336744 missense variant G/A snv 0.800 1.000 5 2013 2017
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.827 0.040 16 56336744 missense variant G/A snv 0.700 1.000 6 2013 2017
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
CUI: C4479569
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
10 0.827 0.040 16 56336744 missense variant G/A snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.040 16 56336744 missense variant G/A snv 0.020 1.000 2 2017 2019
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.827 0.040 16 56336744 missense variant G/A snv 0.020 1.000 2 2017 2019
Chorea
CUI: C0008489
Disease: Chorea
20 0.827 0.040 16 56336744 missense variant G/A snv 0.010 1.000 1 2017 2017
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.827 0.040 16 56336744 missense variant G/A snv 0.010 1.000 1 2017 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.040 16 56336744 missense variant G/A snv 0.010 1.000 1 2019 2019