rs1554770667, GRIN1

N. diseases: 4
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 0.882 9 137163845 missense variant C/T snv 0.800 1.000 7 2011 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 9 137163845 missense variant C/T snv 0.700 1.000 25 1983 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 9 137163845 missense variant C/T snv 0.700 1.000 25 1983 2017
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
CUI: C4693325
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
2 0.882 9 137163845 missense variant C/T snv 0.700 0