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rs62931162

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62931162(-;-)
Make rs62931162(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031020
GeneMECP2
is asnp
is mentioned by
dbSNPrs62931162
ebirs62931162
HLIrs62931162
Exacrs62931162
Varsomers62931162
Maprs62931162
PheGenIrs62931162
hapmaprs62931162
1000 genomesrs62931162
hgdprs62931162
ensemblrs62931162
gopubmedrs62931162
geneviewrs62931162
scholarrs62931162
googlers62931162
pharmgkbrs62931162
gwascentralrs62931162
openSNPrs62931162
23andMers62931162
23andMe allrs62931162
SNP Nexus

SNPshotrs62931162
SNPdbers62931162
MSV3drs62931162
GWAS Ctlgrs62931162
Max Magnitude0
ClinVar
Risk rs62931162(;)
Alt rs62931162(;)
Reference rs62931162(C;C)
Significance Pathogenic
Disease Severe neonatal-onset encephalopathy with microcephaly Rett syndrome
Variation info
Gene MECP2
CLNDBN Severe neonatal-onset encephalopathy with microcephaly Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296471delG
CLNSRC
CLNACC RCV000133243.2, RCV000168692.2,