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rs122454124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122454124(G;T)
Make rs122454124(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position20209307
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs122454124
ebirs122454124
HLIrs122454124
Exacrs122454124
Varsomers122454124
Maprs122454124
PheGenIrs122454124
hapmaprs122454124
1000 genomesrs122454124
hgdprs122454124
ensemblrs122454124
gopubmedrs122454124
geneviewrs122454124
scholarrs122454124
googlers122454124
pharmgkbrs122454124
gwascentralrs122454124
openSNPrs122454124
23andMers122454124
23andMe allrs122454124
SNP Nexus

SNPshotrs122454124
SNPdbers122454124
MSV3drs122454124
GWAS Ctlgrs122454124
Max Magnitude0
OMIM300075
Desc
Variant0002
Relatedalso
ClinVar
Risk rs122454124(T;T)
Alt rs122454124(T;T)
Reference rs122454124(G;G)
Significance Pathogenic
Disease Coffin-Lowry syndrome
Variation info
Gene RPS6KA3
CLNDBN Coffin-Lowry syndrome
Reversed 1
HGVS NC_000023.10:g.20227425C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012417.25,