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rs121918522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918522(C;T)
Make rs121918522(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position54014529
GenePHF8
is asnp
is mentioned by
dbSNPrs121918522
ebirs121918522
HLIrs121918522
Exacrs121918522
Varsomers121918522
Maprs121918522
PheGenIrs121918522
hapmaprs121918522
1000 genomesrs121918522
hgdprs121918522
ensemblrs121918522
gopubmedrs121918522
geneviewrs121918522
scholarrs121918522
googlers121918522
pharmgkbrs121918522
gwascentralrs121918522
openSNPrs121918522
23andMers121918522
23andMe allrs121918522
SNP Nexus

SNPshotrs121918522
SNPdbers121918522
MSV3drs121918522
GWAS Ctlgrs121918522
Max Magnitude0
OMIM300560
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918522(T;T)
Alt rs121918522(T;T)
Reference rs121918522(C;C)
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.54040962G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011545.4,