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rs797045694

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGGACCTCCAG;AGGACCTCCAG) 0 common in clinvar
Make rs797045694(-;-)
Make rs797045694(-;AGGACCTCCAG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154032527
GeneMECP2
is asnp
is mentioned by
dbSNPrs797045694
ClinGenrs797045694
ebirs797045694
HLIrs797045694
Exacrs797045694
Varsomers797045694
Maprs797045694
PheGenIrs797045694
hapmaprs797045694
1000 genomesrs797045694
hgdprs797045694
ensemblrs797045694
gopubmedrs797045694
geneviewrs797045694
scholarrs797045694
googlers797045694
pharmgkbrs797045694
gwascentralrs797045694
openSNPrs797045694
23andMers797045694
23andMe allrs797045694
SNP Nexus

SNPshotrs797045694
SNPdbers797045694
MSV3drs797045694
GWAS Ctlgrs797045694
Max Magnitude0
ClinVar
Risk rs797045694(-;-)
Alt rs797045694(-;-)
Reference Rs797045694(AGGACCTCCAG;AGGACCTCCAG)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153297978_153297988delCTGGAGGTCCT
CLNSRC
CLNACC RCV000193568.1,