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rs122454125

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122454125(G;G)
Make rs122454125(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position20187923
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs122454125
ebirs122454125
HLIrs122454125
Exacrs122454125
Varsomers122454125
Maprs122454125
PheGenIrs122454125
hapmaprs122454125
1000 genomesrs122454125
hgdprs122454125
ensemblrs122454125
gopubmedrs122454125
geneviewrs122454125
scholarrs122454125
googlers122454125
pharmgkbrs122454125
gwascentralrs122454125
openSNPrs122454125
23andMers122454125
23andMe allrs122454125
SNP Nexus

SNPshotrs122454125
SNPdbers122454125
MSV3drs122454125
GWAS Ctlgrs122454125
Max Magnitude0
OMIM300075
Desc
Variant0003
Relatedalso
ClinVar
Risk rs122454125(G;G)
Alt rs122454125(G;G)
Reference rs122454125(T;T)
Significance Pathogenic
Disease Coffin-Lowry syndrome
Variation info
Gene RPS6KA3
CLNDBN Coffin-Lowry syndrome
Reversed 1
HGVS NC_000023.10:g.20206041A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012418.25,