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rs122454130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122454130(A;A)
Make rs122454130(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position20193514
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs122454130
ebirs122454130
HLIrs122454130
Exacrs122454130
Varsomers122454130
Maprs122454130
PheGenIrs122454130
hapmaprs122454130
1000 genomesrs122454130
hgdprs122454130
ensemblrs122454130
gopubmedrs122454130
geneviewrs122454130
scholarrs122454130
googlers122454130
pharmgkbrs122454130
gwascentralrs122454130
openSNPrs122454130
23andMers122454130
23andMe allrs122454130
SNP Nexus

SNPshotrs122454130
SNPdbers122454130
MSV3drs122454130
GWAS Ctlgrs122454130
Max Magnitude0
OMIM300075
Desc
Variant0011
Relatedalso
ClinVar
Risk rs122454130(A;A)
Alt rs122454130(A;A)
Reference rs122454130(T;T)
Significance Pathogenic
Disease Coffin-Lowry syndrome
Variation info
Gene RPS6KA3
CLNDBN Coffin-Lowry syndrome
Reversed 1
HGVS NC_000023.10:g.20211632A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012426.15,