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rs863224879

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224879(C;T)
Make rs863224879(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position53591082
GeneHUWE1
is asnp
is mentioned by
dbSNPrs863224879
ebirs863224879
HLIrs863224879
Exacrs863224879
Varsomers863224879
Maprs863224879
PheGenIrs863224879
hapmaprs863224879
1000 genomesrs863224879
hgdprs863224879
ensemblrs863224879
gopubmedrs863224879
geneviewrs863224879
scholarrs863224879
googlers863224879
pharmgkbrs863224879
gwascentralrs863224879
openSNPrs863224879
23andMers863224879
23andMe allrs863224879
SNP Nexus

SNPshotrs863224879
SNPdbers863224879
MSV3drs863224879
GWAS Ctlgrs863224879
Max Magnitude0
ClinVar
Risk rs863224879(T;T)
Alt rs863224879(T;T)
Reference rs863224879(C;C)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene HUWE1
CLNDBN Mental retardation, X-linked, syndromic, turner type
Reversed 1
HGVS NC_000023.10:g.53618042G>A
CLNSRC
CLNACC RCV000196924.1,