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rs786205031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTCTTCTATCC;AGTCTTCTATCC) 0 common in clinvar
Make rs786205031(AGTCTTCTATCC;CACA)
Make rs786205031(CACA;CACA)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position154030948
GeneMECP2
is asnp
is mentioned by
dbSNPrs786205031
dbSNP (classic)rs786205031
ClinGenrs786205031
ebirs786205031
HLIrs786205031
Exacrs786205031
Gnomadrs786205031
Varsomers786205031
LitVarrs786205031
Maprs786205031
PheGenIrs786205031
Biobankrs786205031
1000 genomesrs786205031
hgdprs786205031
ensemblrs786205031
geneviewrs786205031
scholarrs786205031
googlers786205031
pharmgkbrs786205031
gwascentralrs786205031
openSNPrs786205031
23andMers786205031
SNPshotrs786205031
SNPdbers786205031
MSV3drs786205031
GWAS Ctlgrs786205031
Max Magnitude0
ClinVar
Risk rs786205031(CACA;CACA)
Alt rs786205031(CACA;CACA)
Reference Rs786205031(AGTCTTCTATCC;AGTCTTCTATCC)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296399_153296410delGGATAGAAGACTinsTGTG
CLNSRC
CLNACC RCV000170226.1,