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rs122454128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122454128(C;T)
Make rs122454128(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position20156144
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs122454128
ebirs122454128
HLIrs122454128
Exacrs122454128
Varsomers122454128
Maprs122454128
PheGenIrs122454128
hapmaprs122454128
1000 genomesrs122454128
hgdprs122454128
ensemblrs122454128
gopubmedrs122454128
geneviewrs122454128
scholarrs122454128
googlers122454128
pharmgkbrs122454128
gwascentralrs122454128
openSNPrs122454128
23andMers122454128
23andMe allrs122454128
SNP Nexus

SNPshotrs122454128
SNPdbers122454128
MSV3drs122454128
GWAS Ctlgrs122454128
Max Magnitude0
OMIM300075
Desc
Variant0008
Relatedalso
ClinVar
Risk rs122454128(T;T)
Alt rs122454128(T;T)
Reference rs122454128(C;C)
Significance Pathogenic
Disease Coffin-Lowry syndrome
Variation info
Gene RPS6KA3
CLNDBN Coffin-Lowry syndrome
Reversed 1
HGVS NC_000023.10:g.20174262G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012423.23,