Have questions? Visit https://www.reddit.com/r/SNPedia

rs122458142

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122458142(C;T)
Make rs122458142(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136207827
GeneFHL1
is asnp
is mentioned by
dbSNPrs122458142
ebirs122458142
HLIrs122458142
Exacrs122458142
Varsomers122458142
Maprs122458142
PheGenIrs122458142
hapmaprs122458142
1000 genomesrs122458142
hgdprs122458142
ensemblrs122458142
gopubmedrs122458142
geneviewrs122458142
scholarrs122458142
googlers122458142
pharmgkbrs122458142
gwascentralrs122458142
openSNPrs122458142
23andMers122458142
23andMe allrs122458142
SNP Nexus

SNPshotrs122458142
SNPdbers122458142
MSV3drs122458142
GWAS Ctlgrs122458142
Max Magnitude0
OMIM300163
Desc
Variant0004
Relatedalso
ClinVar
Risk rs122458142(T;T)
Alt rs122458142(T;T)
Reference rs122458142(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene FHL1
CLNDBN Myopathy, reducing body, X-linked, early-onset, severe
Reversed 0
HGVS NC_000023.10:g.135289986C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012306.23,