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rs121913678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913678(A;A)
Make rs121913678(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position28768044
GeneFOXG1
is asnp
is mentioned by
dbSNPrs121913678
dbSNP (classic)rs121913678
ClinGenrs121913678
ebirs121913678
HLIrs121913678
Exacrs121913678
Gnomadrs121913678
Varsomers121913678
LitVarrs121913678
Maprs121913678
PheGenIrs121913678
Biobankrs121913678
1000 genomesrs121913678
hgdprs121913678
ensemblrs121913678
geneviewrs121913678
scholarrs121913678
googlers121913678
pharmgkbrs121913678
gwascentralrs121913678
openSNPrs121913678
23andMers121913678
SNPshotrs121913678
SNPdbers121913678
MSV3drs121913678
GWAS Ctlgrs121913678
Max Magnitude0
OMIM164874
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913678(A;A) rs121913678(T;T)
Alt rs121913678(A;A) rs121913678(T;T)
Reference Rs121913678(G;G)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene FOXG1
CLNDBN Rett syndrome, congenital variant
Reversed 0
HGVS NC_000014.8:g.29237250G>A; NC_000014.8:g.29237250G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014881.26, RCV000145997.2,