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rs122458141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122458141(C;G)
Make rs122458141(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136208625
GeneFHL1
is asnp
is mentioned by
dbSNPrs122458141
ebirs122458141
HLIrs122458141
Exacrs122458141
Varsomers122458141
Maprs122458141
PheGenIrs122458141
hapmaprs122458141
1000 genomesrs122458141
hgdprs122458141
ensemblrs122458141
gopubmedrs122458141
geneviewrs122458141
scholarrs122458141
googlers122458141
pharmgkbrs122458141
gwascentralrs122458141
openSNPrs122458141
23andMers122458141
23andMe allrs122458141
SNP Nexus

SNPshotrs122458141
SNPdbers122458141
MSV3drs122458141
GWAS Ctlgrs122458141
Max Magnitude0
OMIM300163
Desc
Variant0002
Relatedalso
ClinVar
Risk rs122458141(G;G)
Alt rs122458141(G;G)
Reference rs122458141(C;C)
Significance Pathogenic
Disease Myopathy with postural muscle atrophy
Variation info
Gene FHL1
CLNDBN Myopathy with postural muscle atrophy, X-linked
Reversed 0
HGVS NC_000023.10:g.135290784C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012304.24,