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rs786205043

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGAGGAGG;CGAGGAGG) 0 common in clinvar
Make rs786205043(-;-)
Make rs786205043(-;CGAGGAGG)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position154097611
GeneMECP2
is asnp
is mentioned by
dbSNPrs786205043
dbSNP (classic)rs786205043
ClinGenrs786205043
ebirs786205043
HLIrs786205043
Exacrs786205043
Gnomadrs786205043
Varsomers786205043
LitVarrs786205043
Maprs786205043
PheGenIrs786205043
Biobankrs786205043
1000 genomesrs786205043
hgdprs786205043
ensemblrs786205043
geneviewrs786205043
scholarrs786205043
googlers786205043
pharmgkbrs786205043
gwascentralrs786205043
openSNPrs786205043
23andMers786205043
SNPshotrs786205043
SNPdbers786205043
MSV3drs786205043
GWAS Ctlgrs786205043
Max Magnitude0
ClinVar
Risk rs786205043(-;-)
Alt rs786205043(-;-)
Reference Rs786205043(CGAGGAGG;CGAGGAGG)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153363068_153363075delCCTCCTCG
CLNSRC
CLNACC RCV000170289.1,