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rs797044733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044733(-;C)
Make rs797044733(C;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154030661
GeneMECP2
is asnp
is mentioned by
dbSNPrs797044733
dbSNP (old)rs797044733
ClinGenrs797044733
ebirs797044733
HLIrs797044733
Exacrs797044733
Gnomadrs797044733
Varsomers797044733
Maprs797044733
PheGenIrs797044733
Biobankrs797044733
1000 genomesrs797044733
hgdprs797044733
ensemblrs797044733
gopubmedrs797044733
geneviewrs797044733
scholarrs797044733
googlers797044733
pharmgkbrs797044733
gwascentralrs797044733
openSNPrs797044733
23andMers797044733
23andMe allrs797044733
SNP Nexus

SNPshotrs797044733
SNPdbers797044733
MSV3drs797044733
GWAS Ctlgrs797044733
Max Magnitude0
ClinVar
Risk rs797044733(C;C)
Alt rs797044733(C;C)
Reference Rs797044733(-;-)
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.153296113dupG
CLNSRC
CLNACC RCV000178225.1, RCV000178226.1,