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rs121909519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 4 Nemaline Myopathy 3
(C;T) 1 carrier for Nemaline Myopathy 3
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position229432723
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909519
ebirs121909519
HLIrs121909519
Exacrs121909519
Varsomers121909519
Maprs121909519
PheGenIrs121909519
hapmaprs121909519
1000 genomesrs121909519
hgdprs121909519
ensemblrs121909519
gopubmedrs121909519
geneviewrs121909519
scholarrs121909519
googlers121909519
pharmgkbrs121909519
gwascentralrs121909519
openSNPrs121909519
23andMers121909519
23andMe allrs121909519
SNP Nexus

SNPshotrs121909519
SNPdbers121909519
MSV3drs121909519
GWAS Ctlgrs121909519
Max Magnitude4
OMIM102610
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909519(C;C)
Alt rs121909519(C;C)
Reference rs121909519(T;T)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229568470A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019941.29,