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rs122458143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122458143(G;T)
Make rs122458143(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136207855
GeneFHL1
is asnp
is mentioned by
dbSNPrs122458143
ebirs122458143
HLIrs122458143
Exacrs122458143
Varsomers122458143
Maprs122458143
PheGenIrs122458143
hapmaprs122458143
1000 genomesrs122458143
hgdprs122458143
ensemblrs122458143
gopubmedrs122458143
geneviewrs122458143
scholarrs122458143
googlers122458143
pharmgkbrs122458143
gwascentralrs122458143
openSNPrs122458143
23andMers122458143
23andMe allrs122458143
SNP Nexus

SNPshotrs122458143
SNPdbers122458143
MSV3drs122458143
GWAS Ctlgrs122458143
Max Magnitude0
OMIM300163
Desc
Variant0005
Relatedalso
ClinVar
Risk rs122458143(T;T)
Alt rs122458143(T;T)
Reference rs122458143(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene FHL1
CLNDBN Myopathy, reducing body, X-linked, early-onset, severe
Reversed 0
HGVS NC_000023.10:g.135290014G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012307.13,