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rs121918523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918523(A;T)
Make rs121918523(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position54016662
GenePHF8
is asnp
is mentioned by
dbSNPrs121918523
ebirs121918523
HLIrs121918523
Exacrs121918523
Varsomers121918523
Maprs121918523
PheGenIrs121918523
hapmaprs121918523
1000 genomesrs121918523
hgdprs121918523
ensemblrs121918523
gopubmedrs121918523
geneviewrs121918523
scholarrs121918523
googlers121918523
pharmgkbrs121918523
gwascentralrs121918523
openSNPrs121918523
23andMers121918523
23andMe allrs121918523
SNP Nexus

SNPshotrs121918523
SNPdbers121918523
MSV3drs121918523
GWAS Ctlgrs121918523
Max Magnitude0
OMIM300560
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918523(T;T)
Alt rs121918523(T;T)
Reference rs121918523(A;A)
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.54043095T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011546.7,