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rs387906586

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906586(C;C)
Make rs387906586(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position128837450
GeneFLNC
is asnp
is mentioned by
dbSNPrs387906586
ebirs387906586
HLIrs387906586
Exacrs387906586
Varsomers387906586
Maprs387906586
PheGenIrs387906586
hapmaprs387906586
1000 genomesrs387906586
hgdprs387906586
ensemblrs387906586
gopubmedrs387906586
geneviewrs387906586
scholarrs387906586
googlers387906586
pharmgkbrs387906586
gwascentralrs387906586
openSNPrs387906586
23andMers387906586
23andMe allrs387906586
SNP Nexus

SNPshotrs387906586
SNPdbers387906586
MSV3drs387906586
GWAS Ctlgrs387906586
Max Magnitude0
ClinVar
Risk rs387906586(C;C)
Alt rs387906586(C;C)
Reference rs387906586(T;T)
Significance Pathogenic
Disease Myopathy
Variation info
Gene FLNC
CLNDBN Myopathy, distal, 4
Reversed 0
HGVS NC_000007.13:g.128477504T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022428.28,