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rs398122813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
(GGA;GGA) 0 common/normal
Make rs398122813(-;-)
Make rs398122813(-;GGA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position20194216
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs398122813
dbSNP (classic)rs398122813
ClinGenrs398122813
ebirs398122813
HLIrs398122813
Exacrs398122813
Gnomadrs398122813
Varsomers398122813
LitVarrs398122813
Maprs398122813
PheGenIrs398122813
Biobankrs398122813
1000 genomesrs398122813
hgdprs398122813
ensemblrs398122813
geneviewrs398122813
scholarrs398122813
googlers398122813
pharmgkbrs398122813
gwascentralrs398122813
openSNPrs398122813
23andMers398122813
SNPshotrs398122813
SNPdbers398122813
MSV3drs398122813
GWAS Ctlgrs398122813
Max Magnitude0
ClinVar
Risk rs398122813(-;-)
Alt rs398122813(-;-)
Reference Rs398122813(GAG;GAG)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene RPS6KA3
CLNDBN Mental retardation, X-linked 19
Reversed 1
HGVS NC_000023.10:g.20212334_20212336delTCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000022822.23,