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rs786204311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786204311(-;GGGAGTGTGGTGGCAGCCG)
Make rs786204311(GGGAGTGTGGTGGCAGCCG;GGGAGTGTGGTGGCAGCCG)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position154030992
GeneMECP2
is asnp
is mentioned by
dbSNPrs786204311
dbSNP (old)rs786204311
ClinGenrs786204311
ebirs786204311
HLIrs786204311
Exacrs786204311
Gnomadrs786204311
Varsomers786204311
Maprs786204311
PheGenIrs786204311
Biobankrs786204311
1000 genomesrs786204311
hgdprs786204311
ensemblrs786204311
gopubmedrs786204311
geneviewrs786204311
scholarrs786204311
googlers786204311
pharmgkbrs786204311
gwascentralrs786204311
openSNPrs786204311
23andMers786204311
23andMe allrs786204311
SNP Nexus

SNPshotrs786204311
SNPdbers786204311
MSV3drs786204311
GWAS Ctlgrs786204311
Max Magnitude0
ClinVar
Risk rs786204311(GGGAGTGTGGTGGCAGCCG;GGGAGTGTGGTGGCAGCCG)
Alt rs786204311(GGGAGTGTGGTGGCAGCCG;GGGAGTGTGGTGGCAGCCG)
Reference Rs786204311(-;-)
Significance Probable-Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296444_153296462dup19
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000168693.2,