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rs122458145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122458145(A;A)
Make rs122458145(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136207918
GeneFHL1
is asnp
is mentioned by
dbSNPrs122458145
ebirs122458145
HLIrs122458145
Exacrs122458145
Varsomers122458145
Maprs122458145
PheGenIrs122458145
hapmaprs122458145
1000 genomesrs122458145
hgdprs122458145
ensemblrs122458145
gopubmedrs122458145
geneviewrs122458145
scholarrs122458145
googlers122458145
pharmgkbrs122458145
gwascentralrs122458145
openSNPrs122458145
23andMers122458145
23andMe allrs122458145
SNP Nexus

SNPshotrs122458145
SNPdbers122458145
MSV3drs122458145
GWAS Ctlgrs122458145
Max Magnitude0
OMIM300163
Desc
Variant0007
Relatedalso
ClinVar
Risk rs122458145(A;A)
Alt rs122458145(A;A)
Reference rs122458145(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene FHL1
CLNDBN Myopathy, reducing body, X-linked, childhood-onset
Reversed 0
HGVS NC_000023.10:g.135290077G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012309.15,