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rs122459147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122459147(C;C)
Make rs122459147(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136207169
GeneFHL1
is asnp
is mentioned by
dbSNPrs122459147
ebirs122459147
HLIrs122459147
Exacrs122459147
Varsomers122459147
Maprs122459147
PheGenIrs122459147
hapmaprs122459147
1000 genomesrs122459147
hgdprs122459147
ensemblrs122459147
gopubmedrs122459147
geneviewrs122459147
scholarrs122459147
googlers122459147
pharmgkbrs122459147
gwascentralrs122459147
openSNPrs122459147
23andMers122459147
23andMe allrs122459147
SNP Nexus

SNPshotrs122459147
SNPdbers122459147
MSV3drs122459147
GWAS Ctlgrs122459147
Max Magnitude0
OMIM300163
Desc
Variant0009
Relatedalso
ClinVar
Risk rs122459147(C;C)
Alt rs122459147(C;C)
Reference rs122459147(T;T)
Significance Pathogenic
Disease Myopathy
Variation info
Gene FHL1
CLNDBN Myopathy, reducing body, X-linked, childhood-onset
Reversed 0
HGVS NC_000023.10:g.135289328T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012311.25,