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rs1060502840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502840(-;-)
Make rs1060502840(-;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position136206492
GeneFHL1
is asnp
is mentioned by
dbSNPrs1060502840
dbSNP (classic)rs1060502840
ClinGenrs1060502840
ebirs1060502840
HLIrs1060502840
Exacrs1060502840
Gnomadrs1060502840
Varsomers1060502840
LitVarrs1060502840
Maprs1060502840
PheGenIrs1060502840
Biobankrs1060502840
1000 genomesrs1060502840
hgdprs1060502840
ensemblrs1060502840
geneviewrs1060502840
scholarrs1060502840
googlers1060502840
pharmgkbrs1060502840
gwascentralrs1060502840
openSNPrs1060502840
23andMers1060502840
SNPshotrs1060502840
SNPdbers1060502840
MSV3drs1060502840
GWAS Ctlgrs1060502840
Max Magnitude0
ClinVar
Risk rs1060502840(-;-)
Alt rs1060502840(-;-)
Reference Rs1060502840(G;G)
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.135288651delG
CLNSRC
CLNACC RCV000477392.1,