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rs137852215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852215(C;T)
Make rs137852215(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position129823718
GeneZDHHC9
is asnp
is mentioned by
dbSNPrs137852215
dbSNP (classic)rs137852215
ClinGenrs137852215
ebirs137852215
HLIrs137852215
Exacrs137852215
Gnomadrs137852215
Varsomers137852215
LitVarrs137852215
Maprs137852215
PheGenIrs137852215
Biobankrs137852215
1000 genomesrs137852215
hgdprs137852215
ensemblrs137852215
geneviewrs137852215
scholarrs137852215
googlers137852215
pharmgkbrs137852215
gwascentralrs137852215
openSNPrs137852215
23andMers137852215
SNPshotrs137852215
SNPdbers137852215
MSV3drs137852215
GWAS Ctlgrs137852215
Max Magnitude0
OMIM300646
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852215(T;T)
Alt rs137852215(T;T)
Reference Rs137852215(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene ZDHHC9
CLNDBN Mental retardation, X-linked, syndromic, raymond type
Reversed 1
HGVS NC_000023.10:g.128957694G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011458.5,