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rs878854374

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878854374(A;G)
Make rs878854374(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position229431788
GeneACTA1
is asnp
is mentioned by
dbSNPrs878854374
ebirs878854374
HLIrs878854374
Exacrs878854374
Varsomers878854374
Maprs878854374
PheGenIrs878854374
hapmaprs878854374
1000 genomesrs878854374
hgdprs878854374
ensemblrs878854374
gopubmedrs878854374
geneviewrs878854374
scholarrs878854374
googlers878854374
pharmgkbrs878854374
gwascentralrs878854374
openSNPrs878854374
23andMers878854374
23andMe allrs878854374
SNP Nexus

SNPshotrs878854374
SNPdbers878854374
MSV3drs878854374
GWAS Ctlgrs878854374
Max Magnitude0
ClinVar
Risk rs878854374(G;G)
Alt rs878854374(G;G)
Reference rs878854374(A;A)
Significance Probable-Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229567535T>C
CLNSRC
CLNACC RCV000228987.1,