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rs121909525

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
Position229431994
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909525
ebirs121909525
HLIrs121909525
Exacrs121909525
Varsomers121909525
Maprs121909525
PheGenIrs121909525
hapmaprs121909525
1000 genomesrs121909525
hgdprs121909525
ensemblrs121909525
gopubmedrs121909525
geneviewrs121909525
scholarrs121909525
googlers121909525
pharmgkbrs121909525
gwascentralrs121909525
openSNPrs121909525
23andMers121909525
23andMe allrs121909525
SNP Nexus

SNPshotrs121909525
SNPdbers121909525
MSV3drs121909525
GWAS Ctlgrs121909525
Max Magnitude4
OMIM102610
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909525(T;T)
Alt rs121909525(T;T)
Reference rs121909525(G;G)
Significance Pathogenic
Disease Nemaline myopathy 3 Congenital myopathy
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3 Congenital myopathy
Reversed 1
HGVS NC_000001.10:g.229567741C>A; NC_000001.10:g.229567741C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019947.29, RCV000217314.1,