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rs193922677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922677(A;A)
Make rs193922677(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154030501
GeneMECP2
is asnp
is mentioned by
dbSNPrs193922677
dbSNP (classic)rs193922677
ClinGenrs193922677
ebirs193922677
HLIrs193922677
Exacrs193922677
Gnomadrs193922677
Varsomers193922677
LitVarrs193922677
Maprs193922677
PheGenIrs193922677
Biobankrs193922677
1000 genomesrs193922677
hgdprs193922677
ensemblrs193922677
geneviewrs193922677
scholarrs193922677
googlers193922677
pharmgkbrs193922677
gwascentralrs193922677
openSNPrs193922677
23andMers193922677
SNPshotrs193922677
SNPdbers193922677
MSV3drs193922677
GWAS Ctlgrs193922677
Max Magnitude0
ClinVar
Risk rs193922677(A;A)
Alt rs193922677(A;A)
Reference Rs193922677(G;G)
Significance Probable-non-pathogenic
Disease Rett syndrome Mental retardation not provided not specified
Variation info
Gene MECP2
CLNDBN Rett syndrome Mental retardation, X-linked, syndromic 13 not provided not specified
Reversed 1
HGVS NC_000023.10:g.153295952C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030163.1, RCV000170261.1, RCV000415982.1, RCV000438624.1,