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rs61753971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61753971(A;A)
Make rs61753971(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154030546
GeneMECP2
is asnp
is mentioned by
dbSNPrs61753971
dbSNP (classic)rs61753971
ClinGenrs61753971
ebirs61753971
HLIrs61753971
Exacrs61753971
Gnomadrs61753971
Varsomers61753971
LitVarrs61753971
Maprs61753971
PheGenIrs61753971
Biobankrs61753971
1000 genomesrs61753971
hgdprs61753971
ensemblrs61753971
geneviewrs61753971
scholarrs61753971
googlers61753971
pharmgkbrs61753971
gwascentralrs61753971
openSNPrs61753971
23andMers61753971
SNPshotrs61753971
SNPdbers61753971
MSV3drs61753971
GWAS Ctlgrs61753971
Max Magnitude0
OMIM300005
Desc
Variant0023
Relatedalso


ClinVar
Risk rs61753971(A;A)
Alt rs61753971(A;A)
Reference Rs61753971(G;G)
Significance Other
Disease Encephalopathy not specified
Variation info
Gene MECP2
CLNDBN Encephalopathy, neonatal severe, due to mecp2 mutation not specified
Reversed 1
HGVS NC_000023.10:g.153295997C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012604.15, RCV000132982.3,