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rs121918524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918524(C;C)
Make rs121918524(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position54011232
GenePHF8
is asnp
is mentioned by
dbSNPrs121918524
ebirs121918524
HLIrs121918524
Exacrs121918524
Varsomers121918524
Maprs121918524
PheGenIrs121918524
hapmaprs121918524
1000 genomesrs121918524
hgdprs121918524
ensemblrs121918524
gopubmedrs121918524
geneviewrs121918524
scholarrs121918524
googlers121918524
pharmgkbrs121918524
gwascentralrs121918524
openSNPrs121918524
23andMers121918524
23andMe allrs121918524
SNP Nexus

SNPshotrs121918524
SNPdbers121918524
MSV3drs121918524
GWAS Ctlgrs121918524
Max Magnitude0
OMIM300560
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918524(C;C)
Alt rs121918524(C;C)
Reference rs121918524(T;T)
Significance Pathogenic
Disease Siderius X-linked mental retardation syndrome
Variation info
Gene PHF8
CLNDBN Siderius X-linked mental retardation syndrome
Reversed 1
HGVS NC_000023.10:g.54037665A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011547.2,