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: rs797045047
rs797045047
GRIN1
1.000 9 137162510 missense variant G/A;C snv
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.800 1.000 1 2011 2017
dbSNP: rs797045047
rs797045047
GRIN1
1.000 9 137162510 missense variant G/A;C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 25 1983 2017
dbSNP: rs797045047
rs797045047
GRIN1
1.000 9 137162510 missense variant G/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 25 1983 2017