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rs121909522

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
Position229432393
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909522
ebirs121909522
HLIrs121909522
Exacrs121909522
Varsomers121909522
Maprs121909522
PheGenIrs121909522
hapmaprs121909522
1000 genomesrs121909522
hgdprs121909522
ensemblrs121909522
gopubmedrs121909522
geneviewrs121909522
scholarrs121909522
googlers121909522
pharmgkbrs121909522
gwascentralrs121909522
openSNPrs121909522
23andMers121909522
23andMe allrs121909522
SNP Nexus

SNPshotrs121909522
SNPdbers121909522
MSV3drs121909522
GWAS Ctlgrs121909522
Merged fromRs121909532
Max Magnitude4
OMIM102610
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909522(A;A) Rs121909522(T;T)
Alt rs121909522(A;A) Rs121909522(T;T)
Reference Rs121909522(G;G)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229568140C>A; NC_000001.10:g.229568140C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019944.30, RCV000019954.29,