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rs762659685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs762659685(C;T)
Make rs762659685(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position9822286
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs762659685
dbSNP (classic)rs762659685
ClinGenrs762659685
ebirs762659685
HLIrs762659685
Exacrs762659685
Gnomadrs762659685
Varsomers762659685
LitVarrs762659685
Maprs762659685
PheGenIrs762659685
Biobankrs762659685
1000 genomesrs762659685
hgdprs762659685
ensemblrs762659685
geneviewrs762659685
scholarrs762659685
googlers762659685
pharmgkbrs762659685
gwascentralrs762659685
openSNPrs762659685
23andMers762659685
SNPshotrs762659685
SNPdbers762659685
MSV3drs762659685
GWAS Ctlgrs762659685
Max Magnitude0
ClinVar
Risk rs762659685(T;T)
Alt rs762659685(T;T)
Reference Rs762659685(C;C)
Significance Pathogenic
Disease not provided Epilepsy
Variation info
Gene GRIN2A
CLNDBN not provided Epilepsy, focal, with speech disorder and with or without mental retardation
Reversed 0
HGVS NC_000016.9:g.9916143C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000187642.2, RCV000254568.1,