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rs61748390

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61748390(C;G)
Make rs61748390(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031427
GeneMECP2
is asnp
is mentioned by
dbSNPrs61748390
ebirs61748390
HLIrs61748390
Exacrs61748390
Varsomers61748390
Maprs61748390
PheGenIrs61748390
hapmaprs61748390
1000 genomesrs61748390
hgdprs61748390
ensemblrs61748390
gopubmedrs61748390
geneviewrs61748390
scholarrs61748390
googlers61748390
pharmgkbrs61748390
gwascentralrs61748390
openSNPrs61748390
23andMers61748390
23andMe allrs61748390
SNP Nexus

SNPshotrs61748390
SNPdbers61748390
MSV3drs61748390
GWAS Ctlgrs61748390
Max Magnitude0
ClinVar
Risk rs61748390(G,T;G,T)
Alt rs61748390(G,T;G,T)
Reference rs61748390(C;C)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296878G>A; NC_000023.10:g.153296878G>C
CLNSRC
CLNACC RCV000133096.2, RCV000133095.3,