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rs587777354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777354(A;A)
Make rs587777354(A;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position229431559
GeneACTA1
is asnp
is mentioned by
dbSNPrs587777354
ebirs587777354
HLIrs587777354
Exacrs587777354
Varsomers587777354
Maprs587777354
PheGenIrs587777354
hapmaprs587777354
1000 genomesrs587777354
hgdprs587777354
ensemblrs587777354
gopubmedrs587777354
geneviewrs587777354
scholarrs587777354
googlers587777354
pharmgkbrs587777354
gwascentralrs587777354
openSNPrs587777354
23andMers587777354
23andMe allrs587777354
SNP Nexus

SNPshotrs587777354
SNPdbers587777354
MSV3drs587777354
GWAS Ctlgrs587777354
Max Magnitude0
ClinVar
Risk rs587777354(A,C;A,C)
Alt rs587777354(A,C;A,C)
Reference rs587777354(G;G)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229567306C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000115017.3,