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rs397515451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515451(A;A)
Make rs397515451(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position34713546
GeneCFL2
is asnp
is mentioned by
dbSNPrs397515451
ebirs397515451
HLIrs397515451
Exacrs397515451
Varsomers397515451
Maprs397515451
PheGenIrs397515451
hapmaprs397515451
1000 genomesrs397515451
hgdprs397515451
ensemblrs397515451
gopubmedrs397515451
geneviewrs397515451
scholarrs397515451
googlers397515451
pharmgkbrs397515451
gwascentralrs397515451
openSNPrs397515451
23andMers397515451
23andMe allrs397515451
SNP Nexus

SNPshotrs397515451
SNPdbers397515451
MSV3drs397515451
GWAS Ctlgrs397515451
Max Magnitude0
ClinVar
Risk rs397515451(A;A)
Alt rs397515451(A;A)
Reference rs397515451(G;G)
Significance Pathogenic
Disease Nemaline myopathy 7
Variation info
Gene CFL2
CLNDBN Nemaline myopathy 7
Reversed 1
HGVS NC_000014.8:g.35182752C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054442.4,