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rs267606812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606812(A;T)
Make rs267606812(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136207828
GeneFHL1
is asnp
is mentioned by
dbSNPrs267606812
ebirs267606812
HLIrs267606812
Exacrs267606812
Varsomers267606812
Maprs267606812
PheGenIrs267606812
hapmaprs267606812
1000 genomesrs267606812
hgdprs267606812
ensemblrs267606812
gopubmedrs267606812
geneviewrs267606812
scholarrs267606812
googlers267606812
pharmgkbrs267606812
gwascentralrs267606812
openSNPrs267606812
23andMers267606812
23andMe allrs267606812
SNP Nexus

SNPshotrs267606812
SNPdbers267606812
MSV3drs267606812
GWAS Ctlgrs267606812
Max Magnitude0
ClinVar
Risk rs267606812(T;T)
Alt rs267606812(T;T)
Reference Rs267606812(A;A)
Significance Pathogenic
Disease Myopathy
Variation info
Gene FHL1
CLNDBN Myopathy, reducing body, X-linked, early-onset, severe
Reversed 0
HGVS NC_000023.10:g.135289987A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012317.16,