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rs61748392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61748392(A;G)
Make rs61748392(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031418
GeneMECP2
is asnp
is mentioned by
dbSNPrs61748392
dbSNP (classic)rs61748392
ClinGenrs61748392
ebirs61748392
HLIrs61748392
Exacrs61748392
Gnomadrs61748392
Varsomers61748392
LitVarrs61748392
Maprs61748392
PheGenIrs61748392
Biobankrs61748392
1000 genomesrs61748392
hgdprs61748392
ensemblrs61748392
geneviewrs61748392
scholarrs61748392
googlers61748392
pharmgkbrs61748392
gwascentralrs61748392
openSNPrs61748392
23andMers61748392
SNPshotrs61748392
SNPdbers61748392
MSV3drs61748392
GWAS Ctlgrs61748392
Max Magnitude0
OMIM300005
Desc
Variant0017
Relatedalso


ClinVar
Risk rs61748392(G;G)
Alt rs61748392(G;G)
Reference Rs61748392(A;A)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene MECP2
CLNDBN Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296869T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012598.19,