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rs121909527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 2 Nemaline Myopathy 3
(T;T) 4 Nemaline Myopathy 3
ReferenceGRCh38 38.1/141
Chromosome1
Position229433109
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909527
ebirs121909527
HLIrs121909527
Exacrs121909527
Varsomers121909527
Maprs121909527
PheGenIrs121909527
hapmaprs121909527
1000 genomesrs121909527
hgdprs121909527
ensemblrs121909527
gopubmedrs121909527
geneviewrs121909527
scholarrs121909527
googlers121909527
pharmgkbrs121909527
gwascentralrs121909527
openSNPrs121909527
23andMers121909527
23andMe allrs121909527
SNP Nexus

SNPshotrs121909527
SNPdbers121909527
MSV3drs121909527
GWAS Ctlgrs121909527
Max Magnitude4
OMIM102610
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909527(T;T)
Alt rs121909527(T;T)
Reference rs121909527(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene ACTA1
CLNDBN Myopathy, actin, congenital, with cores
Reversed 1
HGVS NC_000001.10:g.229568856C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019949.29,