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rs869320705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869320705(C;T)
Make rs869320705(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position20177017
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs869320705
dbSNP (classic)rs869320705
ClinGenrs869320705
ebirs869320705
HLIrs869320705
Exacrs869320705
Gnomadrs869320705
Varsomers869320705
LitVarrs869320705
Maprs869320705
PheGenIrs869320705
Biobankrs869320705
1000 genomesrs869320705
hgdprs869320705
ensemblrs869320705
geneviewrs869320705
scholarrs869320705
googlers869320705
pharmgkbrs869320705
gwascentralrs869320705
openSNPrs869320705
23andMers869320705
SNPshotrs869320705
SNPdbers869320705
MSV3drs869320705
GWAS Ctlgrs869320705
Max Magnitude0
ClinVar
Risk rs869320705(T;T)
Alt rs869320705(T;T)
Reference Rs869320705(C;C)
Significance Pathogenic
Disease Coffin-Lowry syndrome
Variation info
Gene RPS6KA3
CLNDBN Coffin-Lowry syndrome
Reversed 1
HGVS NC_000023.10:g.20195135G>A
CLNSRC
CLNACC RCV000210889.1,