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rs121909526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 2 Nemaline Myopathy 3
(G;G) 4 Nemaline Myopathy 3
ReferenceGRCh38 38.1/141
Chromosome1
Position229432596
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909526
ebirs121909526
HLIrs121909526
Exacrs121909526
Varsomers121909526
Maprs121909526
PheGenIrs121909526
hapmaprs121909526
1000 genomesrs121909526
hgdprs121909526
ensemblrs121909526
gopubmedrs121909526
geneviewrs121909526
scholarrs121909526
googlers121909526
pharmgkbrs121909526
gwascentralrs121909526
openSNPrs121909526
23andMers121909526
23andMe allrs121909526
SNP Nexus

SNPshotrs121909526
SNPdbers121909526
MSV3drs121909526
GWAS Ctlgrs121909526
Max Magnitude4
OMIM102610
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909526(G;G)
Alt rs121909526(G;G)
Reference rs121909526(C;C)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229568343G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019948.29,