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rs122454129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122454129(C;T)
Make rs122454129(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position20175244
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs122454129
ebirs122454129
HLIrs122454129
Exacrs122454129
Varsomers122454129
Maprs122454129
PheGenIrs122454129
hapmaprs122454129
1000 genomesrs122454129
hgdprs122454129
ensemblrs122454129
gopubmedrs122454129
geneviewrs122454129
scholarrs122454129
googlers122454129
pharmgkbrs122454129
gwascentralrs122454129
openSNPrs122454129
23andMers122454129
23andMe allrs122454129
SNP Nexus

SNPshotrs122454129
SNPdbers122454129
MSV3drs122454129
GWAS Ctlgrs122454129
Max Magnitude0
OMIM300075
Desc
Variant0010
Relatedalso
ClinVar
Risk rs122454129(T;T)
Alt rs122454129(T;T)
Reference rs122454129(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene RPS6KA3
CLNDBN Mental retardation, X-linked 19
Reversed 1
HGVS NC_000023.10:g.20193362G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012425.17,