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rs122458140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122458140(C;C)
Make rs122458140(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136207825
GeneFHL1
is asnp
is mentioned by
dbSNPrs122458140
ebirs122458140
HLIrs122458140
Exacrs122458140
Varsomers122458140
Maprs122458140
PheGenIrs122458140
hapmaprs122458140
1000 genomesrs122458140
hgdprs122458140
ensemblrs122458140
gopubmedrs122458140
geneviewrs122458140
scholarrs122458140
googlers122458140
pharmgkbrs122458140
gwascentralrs122458140
openSNPrs122458140
23andMers122458140
23andMe allrs122458140
SNP Nexus

SNPshotrs122458140
SNPdbers122458140
MSV3drs122458140
GWAS Ctlgrs122458140
Max Magnitude0
OMIM300163
Desc
Variant0001
Relatedalso
ClinVar
Risk rs122458140(C;C)
Alt rs122458140(C;C)
Reference rs122458140(G;G)
Significance Pathogenic
Disease Scapuloperoneal myopathy
Variation info
Gene FHL1
CLNDBN Scapuloperoneal myopathy, X-linked dominant
Reversed 0
HGVS NC_000023.10:g.135289984G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012303.25,