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rs144984628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144984628(C;T)
Make rs144984628(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position20155453
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs144984628
dbSNP (classic)rs144984628
ClinGenrs144984628
ebirs144984628
HLIrs144984628
Exacrs144984628
Gnomadrs144984628
Varsomers144984628
LitVarrs144984628
Maprs144984628
PheGenIrs144984628
Biobankrs144984628
1000 genomesrs144984628
hgdprs144984628
ensemblrs144984628
geneviewrs144984628
scholarrs144984628
googlers144984628
pharmgkbrs144984628
gwascentralrs144984628
openSNPrs144984628
23andMers144984628
SNPshotrs144984628
SNPdbers144984628
MSV3drs144984628
GWAS Ctlgrs144984628
Max Magnitude0
ClinVar
Risk rs144984628(T;T)
Alt rs144984628(T;T)
Reference Rs144984628(C;C)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene RPS6KA3
CLNDBN Mental retardation, X-linked 19
Reversed 0
HGVS NC_000023.10:g.20173571C>T
CLNSRC
CLNACC RCV000193624.1,