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rs28935171

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28935171(A;A)
Make rs28935171(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position20155435
GeneRPS6KA3
is asnp
is mentioned by
dbSNPrs28935171
ebirs28935171
HLIrs28935171
Exacrs28935171
Varsomers28935171
Maprs28935171
PheGenIrs28935171
hapmaprs28935171
1000 genomesrs28935171
hgdprs28935171
ensemblrs28935171
gopubmedrs28935171
geneviewrs28935171
scholarrs28935171
googlers28935171
pharmgkbrs28935171
gwascentralrs28935171
openSNPrs28935171
23andMers28935171
23andMe allrs28935171
SNP Nexus

SNPshotrs28935171
SNPdbers28935171
MSV3drs28935171
GWAS Ctlgrs28935171
Max Magnitude0
OMIM300075
DescCOFFIN-LOWRY SYNDROME
Variant0009
Relatedalso


ClinVar
Risk rs28935171(A;A)
Alt rs28935171(A;A)
Reference rs28935171(G;G)
Significance Pathogenic
Disease Coffin-Lowry syndrome
Variation info
Gene RPS6KA3
CLNDBN Coffin-Lowry syndrome
Reversed 1
HGVS NC_000023.10:g.20173553C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012424.23,