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rs137852214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852214(C;T)
Make rs137852214(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position129823724
GeneZDHHC9
is asnp
is mentioned by
dbSNPrs137852214
dbSNP (classic)rs137852214
ClinGenrs137852214
ebirs137852214
HLIrs137852214
Exacrs137852214
Gnomadrs137852214
Varsomers137852214
LitVarrs137852214
Maprs137852214
PheGenIrs137852214
Biobankrs137852214
1000 genomesrs137852214
hgdprs137852214
ensemblrs137852214
geneviewrs137852214
scholarrs137852214
googlers137852214
pharmgkbrs137852214
gwascentralrs137852214
openSNPrs137852214
23andMers137852214
SNPshotrs137852214
SNPdbers137852214
MSV3drs137852214
GWAS Ctlgrs137852214
Max Magnitude0
OMIM300646
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852214(T;T)
Alt rs137852214(T;T)
Reference Rs137852214(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.128957700G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011457.6,