rs797045047, GRIN1

N. diseases: 3
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.
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
16 1.000 9 137162510 missense variant G/A;C snv 0.800 1.000 8 2011 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1.000 9 137162510 missense variant G/A;C snv 0.700 1.000 25 1983 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 9 137162510 missense variant G/A;C snv 0.700 1.000 25 1983 2017