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rs121909523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 2 Nemaline Myopathy 3
(T;T) 4 Nemaline Myopathy 3
ReferenceGRCh38 38.1/141
Chromosome1
Position229432020
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909523
ebirs121909523
HLIrs121909523
Exacrs121909523
Varsomers121909523
Maprs121909523
PheGenIrs121909523
hapmaprs121909523
1000 genomesrs121909523
hgdprs121909523
ensemblrs121909523
gopubmedrs121909523
geneviewrs121909523
scholarrs121909523
googlers121909523
pharmgkbrs121909523
gwascentralrs121909523
openSNPrs121909523
23andMers121909523
23andMe allrs121909523
SNP Nexus

SNPshotrs121909523
SNPdbers121909523
MSV3drs121909523
GWAS Ctlgrs121909523
Max Magnitude4
OMIM102610
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909523(T;T)
Alt rs121909523(T;T)
Reference rs121909523(A;A)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229567767T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019945.29,