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rs121918527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918527(C;T)
Make rs121918527(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53535474
GeneHUWE1
is asnp
is mentioned by
dbSNPrs121918527
ebirs121918527
HLIrs121918527
Exacrs121918527
Varsomers121918527
Maprs121918527
PheGenIrs121918527
hapmaprs121918527
1000 genomesrs121918527
hgdprs121918527
ensemblrs121918527
gopubmedrs121918527
geneviewrs121918527
scholarrs121918527
googlers121918527
pharmgkbrs121918527
gwascentralrs121918527
openSNPrs121918527
23andMers121918527
23andMe allrs121918527
SNP Nexus

SNPshotrs121918527
SNPdbers121918527
MSV3drs121918527
GWAS Ctlgrs121918527
Max Magnitude0
OMIM300697
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918527(T;T)
Alt rs121918527(T;T)
Reference rs121918527(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene HUWE1
CLNDBN Mental retardation, X-linked, syndromic, turner type
Reversed 1
HGVS NC_000023.10:g.53562435G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011424.5,