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rs1057519404

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519404(-;C)
Make rs1057519404(C;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154030716
GeneMECP2
is asnp
is mentioned by
dbSNPrs1057519404
dbSNP (classic)rs1057519404
ClinGenrs1057519404
ebirs1057519404
HLIrs1057519404
Exacrs1057519404
Gnomadrs1057519404
Varsomers1057519404
LitVarrs1057519404
Maprs1057519404
PheGenIrs1057519404
Biobankrs1057519404
1000 genomesrs1057519404
hgdprs1057519404
ensemblrs1057519404
geneviewrs1057519404
scholarrs1057519404
googlers1057519404
pharmgkbrs1057519404
gwascentralrs1057519404
openSNPrs1057519404
23andMers1057519404
SNPshotrs1057519404
SNPdbers1057519404
MSV3drs1057519404
GWAS Ctlgrs1057519404
Max Magnitude0
ClinVar
Risk rs1057519404(C;C)
Alt rs1057519404(C;C)
Reference Rs1057519404(-;-)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene MECP2
CLNDBN Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296168dupG
CLNSRC
CLNACC RCV000417086.1,