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rs121434615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434615(C;T)
Make rs121434615(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120539349
GeneCUL4B
is asnp
is mentioned by
dbSNPrs121434615
ebirs121434615
HLIrs121434615
Exacrs121434615
Varsomers121434615
Maprs121434615
PheGenIrs121434615
hapmaprs121434615
1000 genomesrs121434615
hgdprs121434615
ensemblrs121434615
gopubmedrs121434615
geneviewrs121434615
scholarrs121434615
googlers121434615
pharmgkbrs121434615
gwascentralrs121434615
openSNPrs121434615
23andMers121434615
23andMe allrs121434615
SNP Nexus

SNPshotrs121434615
SNPdbers121434615
MSV3drs121434615
GWAS Ctlgrs121434615
Max Magnitude0
OMIM300304
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434615(T;T)
Alt rs121434615(T;T)
Reference rs121434615(C;C)
Significance Pathogenic
Disease Syndromic X-linked mental retardation
Variation info
Gene CUL4B
CLNDBN Syndromic X-linked mental retardation, Cabezas type
Reversed 1
HGVS NC_000023.10:g.119673204G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012091.12,