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rs61750241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61750241(-;-)
Make rs61750241(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031022
GeneMECP2
is asnp
is mentioned by
dbSNPrs61750241
ebirs61750241
HLIrs61750241
Exacrs61750241
Varsomers61750241
Maprs61750241
PheGenIrs61750241
hapmaprs61750241
1000 genomesrs61750241
hgdprs61750241
ensemblrs61750241
gopubmedrs61750241
geneviewrs61750241
scholarrs61750241
googlers61750241
pharmgkbrs61750241
gwascentralrs61750241
openSNPrs61750241
23andMers61750241
23andMe allrs61750241
SNP Nexus

SNPshotrs61750241
SNPdbers61750241
MSV3drs61750241
GWAS Ctlgrs61750241
Max Magnitude0
ClinVar
Risk rs61750241(;)
Alt rs61750241(;)
Reference rs61750241(G;G)
Significance Pathogenic
Disease not provided Rett syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation
Variation info
Gene MECP2
CLNDBN not provided Rett syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296473delC
CLNSRC HGMD
CLNACC RCV000081211.6, RCV000168691.6, RCV000169939.1, RCV000170113.2,