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rs137852352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852352(C;C)
Make rs137852352(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position123464905
GeneGRIA3
is asnp
is mentioned by
dbSNPrs137852352
dbSNP (classic)rs137852352
ClinGenrs137852352
ebirs137852352
HLIrs137852352
Exacrs137852352
Gnomadrs137852352
Varsomers137852352
LitVarrs137852352
Maprs137852352
PheGenIrs137852352
Biobankrs137852352
1000 genomesrs137852352
hgdprs137852352
ensemblrs137852352
geneviewrs137852352
scholarrs137852352
googlers137852352
pharmgkbrs137852352
gwascentralrs137852352
openSNPrs137852352
23andMers137852352
SNPshotrs137852352
SNPdbers137852352
MSV3drs137852352
GWAS Ctlgrs137852352
Max Magnitude0
OMIM305915
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852352(C;C)
Alt rs137852352(C;C)
Reference Rs137852352(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GRIA3
CLNDBN Mental retardation, X-linked, syndromic, wu type
Reversed 0
HGVS NC_000023.10:g.122598756T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011071.5,