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rs61748408

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61748408(C;G)
Make rs61748408(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031360
GeneMECP2
is asnp
is mentioned by
dbSNPrs61748408
dbSNP (classic)rs61748408
ClinGenrs61748408
ebirs61748408
HLIrs61748408
Exacrs61748408
Gnomadrs61748408
Varsomers61748408
LitVarrs61748408
Maprs61748408
PheGenIrs61748408
Biobankrs61748408
1000 genomesrs61748408
hgdprs61748408
ensemblrs61748408
geneviewrs61748408
scholarrs61748408
googlers61748408
pharmgkbrs61748408
gwascentralrs61748408
openSNPrs61748408
23andMers61748408
SNPshotrs61748408
SNPdbers61748408
MSV3drs61748408
GWAS Ctlgrs61748408
Max Magnitude0
ClinVar
Risk rs61748408(A;A) rs61748408(G;G) rs61748408(T;T)
Alt rs61748408(A;A) rs61748408(G;G) rs61748408(T;T)
Reference Rs61748408(C;C)
Significance Pathogenic
Disease not provided Rett syndrome Mental retardation
Variation info
Gene MECP2
CLNDBN not provided Rett syndrome Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296811G>A; NC_000023.10:g.153296811G>C; NC_000023.10:g.153296811G>T
CLNSRC ClinVar Emory University GeneDx
CLNACC RCV000133122.1, RCV000081204.8, RCV000169946.5, RCV000178229.1, RCV000445574.1,