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rs122454127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122454127(C;T)
Make rs122454127(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position20195131
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs122454127
ebirs122454127
HLIrs122454127
Exacrs122454127
Varsomers122454127
Maprs122454127
PheGenIrs122454127
hapmaprs122454127
1000 genomesrs122454127
hgdprs122454127
ensemblrs122454127
gopubmedrs122454127
geneviewrs122454127
scholarrs122454127
googlers122454127
pharmgkbrs122454127
gwascentralrs122454127
openSNPrs122454127
23andMers122454127
23andMe allrs122454127
SNP Nexus

SNPshotrs122454127
SNPdbers122454127
MSV3drs122454127
GWAS Ctlgrs122454127
Max Magnitude0
OMIM300075
Desc
Variant0006
Relatedalso
ClinVar
Risk rs122454127(T;T)
Alt rs122454127(T;T)
Reference rs122454127(C;C)
Significance Pathogenic
Disease Coffin-Lowry syndrome
Variation info
Gene RPS6KA3
CLNDBN Coffin-Lowry syndrome
Reversed 1
HGVS NC_000023.10:g.20213249G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012421.25,