Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918525

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918525(C;T)
Make rs121918525(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53537656
GeneHUWE1
is asnp
is mentioned by
dbSNPrs121918525
ebirs121918525
HLIrs121918525
Exacrs121918525
Varsomers121918525
Maprs121918525
PheGenIrs121918525
hapmaprs121918525
1000 genomesrs121918525
hgdprs121918525
ensemblrs121918525
gopubmedrs121918525
geneviewrs121918525
scholarrs121918525
googlers121918525
pharmgkbrs121918525
gwascentralrs121918525
openSNPrs121918525
23andMers121918525
23andMe allrs121918525
SNP Nexus

SNPshotrs121918525
SNPdbers121918525
MSV3drs121918525
GWAS Ctlgrs121918525
Max Magnitude0
OMIM300697
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918525(T;T)
Alt rs121918525(T;T)
Reference rs121918525(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.53564617G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011422.5,