Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 2 Nemaline Myopathy 3
(C;C) 4 Nemaline Myopathy 3
ReferenceGRCh38 38.1/141
Chromosome1
Position229431558
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909524
ebirs121909524
HLIrs121909524
Exacrs121909524
Varsomers121909524
Maprs121909524
PheGenIrs121909524
hapmaprs121909524
1000 genomesrs121909524
hgdprs121909524
ensemblrs121909524
gopubmedrs121909524
geneviewrs121909524
scholarrs121909524
googlers121909524
pharmgkbrs121909524
gwascentralrs121909524
openSNPrs121909524
23andMers121909524
23andMe allrs121909524
SNP Nexus

SNPshotrs121909524
SNPdbers121909524
MSV3drs121909524
GWAS Ctlgrs121909524
Max Magnitude4
OMIM102610
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909524(C;C)
Alt rs121909524(C;C)
Reference rs121909524(A;A)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229567305T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019946.29,