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rs61753965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61753965(C;T)
Make rs61753965(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position154030612
GeneMECP2
is asnp
is mentioned by
dbSNPrs61753965
dbSNP (classic)rs61753965
ClinGenrs61753965
ebirs61753965
HLIrs61753965
Exacrs61753965
Gnomadrs61753965
Varsomers61753965
LitVarrs61753965
Maprs61753965
PheGenIrs61753965
Biobankrs61753965
1000 genomesrs61753965
hgdprs61753965
ensemblrs61753965
geneviewrs61753965
scholarrs61753965
googlers61753965
pharmgkbrs61753965
gwascentralrs61753965
openSNPrs61753965
23andMers61753965
SNPshotrs61753965
SNPdbers61753965
MSV3drs61753965
GWAS Ctlgrs61753965
Max Magnitude0
OMIM300005
Desc
Variant0009
Relatedalso


ClinVar
Risk rs61753965(T;T)
Alt rs61753965(T;T)
Reference Rs61753965(C;C)
Significance Pathogenic
Disease not provided Rett syndrome Mental retardation
Variation info
Gene MECP2
CLNDBN not provided Rett syndrome Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296063G>A
CLNSRC ClinVar GeneDx
CLNACC RCV000132967.3, RCV000169933.1, RCV000170106.1,