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rs879255639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.5 Myofibrillar Myopathy
Make rs879255639(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome7
Position128848926
GeneFLNC
is asnp
is mentioned by
dbSNPrs879255639
dbSNP (classic)rs879255639
ClinGenrs879255639
ebirs879255639
HLIrs879255639
Exacrs879255639
Gnomadrs879255639
Varsomers879255639
LitVarrs879255639
Maprs879255639
PheGenIrs879255639
Biobankrs879255639
1000 genomesrs879255639
hgdprs879255639
ensemblrs879255639
geneviewrs879255639
scholarrs879255639
googlers879255639
pharmgkbrs879255639
gwascentralrs879255639
openSNPrs879255639
23andMers879255639
SNPshotrs879255639
SNPdbers879255639
MSV3drs879255639
GWAS Ctlgrs879255639
Max Magnitude6.5
ClinVar
Risk rs879255639(T;T)
Alt rs879255639(T;T)
Reference Rs879255639(C;C)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene FLNC
CLNDBN Cardiomyopathy, familial restrictive, 5
Reversed 0
HGVS NC_000007.13:g.128488980C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239540.1,