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rs1057518718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518718(A;A)
Make rs1057518718(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154032252
GeneMECP2
is asnp
is mentioned by
dbSNPrs1057518718
dbSNP (old)rs1057518718
ClinGenrs1057518718
ebirs1057518718
HLIrs1057518718
Exacrs1057518718
Gnomadrs1057518718
Varsomers1057518718
LitVarrs1057518718
Maprs1057518718
PheGenIrs1057518718
Biobankrs1057518718
1000 genomesrs1057518718
hgdprs1057518718
ensemblrs1057518718
gopubmedrs1057518718
geneviewrs1057518718
scholarrs1057518718
googlers1057518718
pharmgkbrs1057518718
gwascentralrs1057518718
openSNPrs1057518718
23andMers1057518718
23andMe allrs1057518718
SNPshotrs1057518718
SNPdbers1057518718
MSV3drs1057518718
GWAS Ctlgrs1057518718
Max Magnitude0
ClinVar
Risk rs1057518718(A;A)
Alt rs1057518718(A;A)
Reference Rs1057518718(G;G)
Significance Probable-Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153297703C>T
CLNSRC
CLNACC RCV000415409.1,