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rs122458144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122458144(C;C)
Make rs122458144(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136207917
GeneFHL1
is asnp
is mentioned by
dbSNPrs122458144
ebirs122458144
HLIrs122458144
Exacrs122458144
Varsomers122458144
Maprs122458144
PheGenIrs122458144
hapmaprs122458144
1000 genomesrs122458144
hgdprs122458144
ensemblrs122458144
gopubmedrs122458144
geneviewrs122458144
scholarrs122458144
googlers122458144
pharmgkbrs122458144
gwascentralrs122458144
openSNPrs122458144
23andMers122458144
23andMe allrs122458144
SNP Nexus

SNPshotrs122458144
SNPdbers122458144
MSV3drs122458144
GWAS Ctlgrs122458144
Max Magnitude0
OMIM300163
Desc
Variant0006
Relatedalso
ClinVar
Risk rs122458144(C;C)
Alt rs122458144(C;C)
Reference rs122458144(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.135290076T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012308.17,