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rs121909518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909518(A;A)
Make rs121909518(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position128858475
GeneFLNC
is asnp
is mentioned by
dbSNPrs121909518
ebirs121909518
HLIrs121909518
Exacrs121909518
Varsomers121909518
Maprs121909518
PheGenIrs121909518
hapmaprs121909518
1000 genomesrs121909518
hgdprs121909518
ensemblrs121909518
gopubmedrs121909518
geneviewrs121909518
scholarrs121909518
googlers121909518
pharmgkbrs121909518
gwascentralrs121909518
openSNPrs121909518
23andMers121909518
23andMe allrs121909518
SNP Nexus

SNPshotrs121909518
SNPdbers121909518
MSV3drs121909518
GWAS Ctlgrs121909518
Max Magnitude0
OMIM102565
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909518(A;A)
Alt rs121909518(A;A)
Reference rs121909518(G;G)
Significance Pathogenic
Disease Myofibrillar myopathy
Variation info
Gene FLNC
CLNDBN Myofibrillar myopathy, filamin C-related
Reversed 0
HGVS NC_000007.13:g.128498529G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019978.28,