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rs786205047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs786205047(-;-)
Make rs786205047(-;GA)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position154097606
GeneMECP2
is asnp
is mentioned by
dbSNPrs786205047
dbSNP (classic)rs786205047
ClinGenrs786205047
ebirs786205047
HLIrs786205047
Exacrs786205047
Gnomadrs786205047
Varsomers786205047
LitVarrs786205047
Maprs786205047
PheGenIrs786205047
Biobankrs786205047
1000 genomesrs786205047
hgdprs786205047
ensemblrs786205047
geneviewrs786205047
scholarrs786205047
googlers786205047
pharmgkbrs786205047
gwascentralrs786205047
openSNPrs786205047
23andMers786205047
SNPshotrs786205047
SNPdbers786205047
MSV3drs786205047
GWAS Ctlgrs786205047
Max Magnitude0
ClinVar
Risk rs786205047(-;-)
Alt rs786205047(-;-)
Reference Rs786205047(GA;GA)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153363063_153363064delTC
CLNSRC
CLNACC RCV000170293.1,