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rs122454131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122454131(C;C)
Make rs122454131(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position20186338
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs122454131
ebirs122454131
HLIrs122454131
Exacrs122454131
Varsomers122454131
Maprs122454131
PheGenIrs122454131
hapmaprs122454131
1000 genomesrs122454131
hgdprs122454131
ensemblrs122454131
gopubmedrs122454131
geneviewrs122454131
scholarrs122454131
googlers122454131
pharmgkbrs122454131
gwascentralrs122454131
openSNPrs122454131
23andMers122454131
23andMe allrs122454131
SNP Nexus

SNPshotrs122454131
SNPdbers122454131
MSV3drs122454131
GWAS Ctlgrs122454131
Max Magnitude0
OMIM300075
Desc
Variant0017
Relatedalso
ClinVar
Risk rs122454131(C;C)
Alt rs122454131(C;C)
Reference rs122454131(T;T)
Significance Pathogenic
Disease Coffin-Lowry syndrome
Variation info
Gene RPS6KA3
CLNDBN Coffin-Lowry syndrome
Reversed 1
HGVS NC_000023.10:g.20204456A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012432.25,