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rs121434622

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434622(A;A)
Make rs121434622(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position147936534
GeneFMR1
is asnp
is mentioned by
dbSNPrs121434622
dbSNP (classic)rs121434622
ClinGenrs121434622
ebirs121434622
HLIrs121434622
Exacrs121434622
Gnomadrs121434622
Varsomers121434622
LitVarrs121434622
Maprs121434622
PheGenIrs121434622
Biobankrs121434622
1000 genomesrs121434622
hgdprs121434622
ensemblrs121434622
geneviewrs121434622
scholarrs121434622
googlers121434622
pharmgkbrs121434622
gwascentralrs121434622
openSNPrs121434622
23andMers121434622
SNPshotrs121434622
SNPdbers121434622
MSV3drs121434622
GWAS Ctlgrs121434622
Max Magnitude0
OMIM309550
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434622(A;A)
Alt rs121434622(A;A)
Reference Rs121434622(T;T)
Significance Pathogenic
Disease Fragile X syndrome
Variation info
Gene FMR1
CLNDBN Fragile X syndrome
Reversed 0
HGVS NC_000023.10:g.147018053T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010648.3,