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rs122454126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122454126(G;T)
Make rs122454126(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position20204103
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs122454126
ebirs122454126
HLIrs122454126
Exacrs122454126
Varsomers122454126
Maprs122454126
PheGenIrs122454126
hapmaprs122454126
1000 genomesrs122454126
hgdprs122454126
ensemblrs122454126
gopubmedrs122454126
geneviewrs122454126
scholarrs122454126
googlers122454126
pharmgkbrs122454126
gwascentralrs122454126
openSNPrs122454126
23andMers122454126
23andMe allrs122454126
SNP Nexus

SNPshotrs122454126
SNPdbers122454126
MSV3drs122454126
GWAS Ctlgrs122454126
Max Magnitude0
OMIM300075
Desc
Variant0004
Relatedalso
ClinVar
Risk rs122454126(T;T)
Alt rs122454126(T;T)
Reference rs122454126(G;G)
Significance Pathogenic
Disease Coffin-Lowry syndrome
Variation info
Gene RPS6KA3
CLNDBN Coffin-Lowry syndrome
Reversed 1
HGVS NC_000023.10:g.20222221C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012419.23,