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rs121909520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 2 Nemaline Myopathy 3
(G;G) 4 Nemaline Myopathy 3
ReferenceGRCh38 38.1/141
Chromosome1
Position229432660
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909520
ebirs121909520
HLIrs121909520
Exacrs121909520
Varsomers121909520
Maprs121909520
PheGenIrs121909520
hapmaprs121909520
1000 genomesrs121909520
hgdprs121909520
ensemblrs121909520
gopubmedrs121909520
geneviewrs121909520
scholarrs121909520
googlers121909520
pharmgkbrs121909520
gwascentralrs121909520
openSNPrs121909520
23andMers121909520
23andMe allrs121909520
SNP Nexus

SNPshotrs121909520
SNPdbers121909520
MSV3drs121909520
GWAS Ctlgrs121909520
Max Magnitude4
OMIM102610
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909520(G;G)
Alt rs121909520(G;G)
Reference rs121909520(A;A)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229568407T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019942.29,