Source: CURATED

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: rs587777057
rs587777057
GNAO1
0.827 0.040 16 56336744 missense variant G/A snv
CUI: C3809606
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 		0.800 1.000 5 2013 2017
dbSNP: rs587777057
rs587777057
GNAO1
0.827 0.040 16 56336744 missense variant G/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 6 2013 2017
dbSNP: rs587777057
rs587777057
GNAO1
0.827 0.040 16 56336744 missense variant G/A snv
CUI: C4479569
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS 		0.700 0