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rs137852350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852350(A;A)
Make rs137852350(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position123482856
GeneGRIA3
is asnp
is mentioned by
dbSNPrs137852350
dbSNP (classic)rs137852350
ClinGenrs137852350
ebirs137852350
HLIrs137852350
Exacrs137852350
Gnomadrs137852350
Varsomers137852350
LitVarrs137852350
Maprs137852350
PheGenIrs137852350
Biobankrs137852350
1000 genomesrs137852350
hgdprs137852350
ensemblrs137852350
geneviewrs137852350
scholarrs137852350
googlers137852350
pharmgkbrs137852350
gwascentralrs137852350
openSNPrs137852350
23andMers137852350
SNPshotrs137852350
SNPdbers137852350
MSV3drs137852350
GWAS Ctlgrs137852350
Max Magnitude0
OMIM305915
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852350(A;A)
Alt rs137852350(A;A)
Reference Rs137852350(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GRIA3
CLNDBN Mental retardation, X-linked, syndromic, wu type
Reversed 0
HGVS NC_000023.10:g.122616707G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011069.4,