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rs121909521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 4 Nemaline Myopathy 3
(C;G) 2 Nemaline Myopathy 3
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position229433067
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909521
ebirs121909521
HLIrs121909521
Exacrs121909521
Varsomers121909521
Maprs121909521
PheGenIrs121909521
hapmaprs121909521
1000 genomesrs121909521
hgdprs121909521
ensemblrs121909521
gopubmedrs121909521
geneviewrs121909521
scholarrs121909521
googlers121909521
pharmgkbrs121909521
gwascentralrs121909521
openSNPrs121909521
23andMers121909521
23andMe allrs121909521
SNP Nexus

SNPshotrs121909521
SNPdbers121909521
MSV3drs121909521
GWAS Ctlgrs121909521
Max Magnitude4
OMIM102610
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909521(C;C)
Alt rs121909521(C;C)
Reference rs121909521(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene ACTA1
CLNDBN Myopathy, actin, congenital, with excess of thin myofilaments
Reversed 1
HGVS NC_000001.10:g.229568814C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019943.30,