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rs786205030

From SNPedia

Orientationminus
Geno Mag Summary
(GAAAG;GAAAG) 0 common in clinvar
Make rs786205030(AAAAAAAAGACT;AAAAAAAAGACT)
Make rs786205030(AAAAAAAAGACT;GAAAG)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position154030969
GeneMECP2
is asnp
is mentioned by
dbSNPrs786205030
ebirs786205030
HLIrs786205030
Exacrs786205030
Varsomers786205030
Maprs786205030
PheGenIrs786205030
hapmaprs786205030
1000 genomesrs786205030
hgdprs786205030
ensemblrs786205030
gopubmedrs786205030
geneviewrs786205030
scholarrs786205030
googlers786205030
pharmgkbrs786205030
gwascentralrs786205030
openSNPrs786205030
23andMers786205030
23andMe allrs786205030
SNP Nexus

SNPshotrs786205030
SNPdbers786205030
MSV3drs786205030
GWAS Ctlgrs786205030
Max Magnitude0
ClinVar
Risk rs786205030(AAAAAAAAGACT;AAAAAAAAGACT)
Alt rs786205030(AAAAAAAAGACT;AAAAAAAAGACT)
Reference rs786205030(GAAAG;GAAAG)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296420_153296424delCTTTCinsAGTCTTTTTTTT
CLNSRC
CLNACC RCV000170224.1,