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rs137852351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852351(A;A)
Make rs137852351(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position123427954
GeneGRIA3
is asnp
is mentioned by
dbSNPrs137852351
dbSNP (classic)rs137852351
ClinGenrs137852351
ebirs137852351
HLIrs137852351
Exacrs137852351
Gnomadrs137852351
Varsomers137852351
LitVarrs137852351
Maprs137852351
PheGenIrs137852351
Biobankrs137852351
1000 genomesrs137852351
hgdprs137852351
ensemblrs137852351
geneviewrs137852351
scholarrs137852351
googlers137852351
pharmgkbrs137852351
gwascentralrs137852351
openSNPrs137852351
23andMers137852351
SNPshotrs137852351
SNPdbers137852351
MSV3drs137852351
GWAS Ctlgrs137852351
Max Magnitude0
OMIM305915
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852351(A;A)
Alt rs137852351(A;A)
Reference Rs137852351(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GRIA3
CLNDBN Mental retardation, X-linked, syndromic, wu type
Reversed 0
HGVS NC_000023.10:g.122561805C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011070.3,