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rs121918526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918526(A;A)
Make rs121918526(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position53551420
GeneHUWE1
is asnp
is mentioned by
dbSNPrs121918526
ebirs121918526
HLIrs121918526
Exacrs121918526
Varsomers121918526
Maprs121918526
PheGenIrs121918526
hapmaprs121918526
1000 genomesrs121918526
hgdprs121918526
ensemblrs121918526
gopubmedrs121918526
geneviewrs121918526
scholarrs121918526
googlers121918526
pharmgkbrs121918526
gwascentralrs121918526
openSNPrs121918526
23andMers121918526
23andMe allrs121918526
SNP Nexus

SNPshotrs121918526
SNPdbers121918526
MSV3drs121918526
GWAS Ctlgrs121918526
Max Magnitude0
OMIM300697
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918526(A;A)
Alt rs121918526(A;A)
Reference rs121918526(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene HUWE1
CLNDBN Mental retardation, X-linked, syndromic, turner type
Reversed 1
HGVS NC_000023.10:g.53578381C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011423.3,