Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909532

From SNPedia

Merged intors121909522
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Nemaline Myopathy 3
(A;G) 2 Nemaline Myopathy 3
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position229432393
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909532
ebirs121909532
HLIrs121909532
Exacrs121909532
Varsomers121909532
Maprs121909532
PheGenIrs121909532
hapmaprs121909532
1000 genomesrs121909532
hgdprs121909532
ensemblrs121909532
gopubmedrs121909532
geneviewrs121909532
scholarrs121909532
googlers121909532
pharmgkbrs121909532
gwascentralrs121909532
openSNPrs121909532
23andMers121909532
23andMe allrs121909532
SNP Nexus

SNPshotrs121909532
SNPdbers121909532
MSV3drs121909532
GWAS Ctlgrs121909532
StatusMerged into rs121909522
Max Magnitude4
OMIM102610
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121909532(A;A)
Alt rs121909532(A;A)
Reference rs121909532(G;G)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229568140C>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000040252.1,