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rs61751449

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61751449(C;T)
Make rs61751449(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154030864
GeneMECP2
is asnp
is mentioned by
dbSNPrs61751449
dbSNP (classic)rs61751449
ClinGenrs61751449
ebirs61751449
HLIrs61751449
Exacrs61751449
Gnomadrs61751449
Varsomers61751449
LitVarrs61751449
Maprs61751449
PheGenIrs61751449
Biobankrs61751449
1000 genomesrs61751449
hgdprs61751449
ensemblrs61751449
geneviewrs61751449
scholarrs61751449
googlers61751449
pharmgkbrs61751449
gwascentralrs61751449
openSNPrs61751449
23andMers61751449
SNPshotrs61751449
SNPdbers61751449
MSV3drs61751449
GWAS Ctlgrs61751449
Max Magnitude0
OMIM300005
Desc
Variant0035
Relatedalso


ClinVar
Risk rs61751449(G;G) rs61751449(T;T)
Alt rs61751449(G;G) rs61751449(T;T)
Reference Rs61751449(C;C)
Significance Pathogenic
Disease Mental retardation Rett syndrome
Variation info
Gene MECP2
CLNDBN Mental retardation, X-linked, syndromic 13 Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296315G>A; NC_000023.10:g.153296315G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012617.18, RCV000416315.1, RCV000169949.1,