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rs121909528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 2 Nemaline Myopathy 3
(C;C) 4 Nemaline Myopathy 3
ReferenceGRCh38 38.1/141
Chromosome1
Position229431626
GeneACTA1
is asnp
is mentioned by
dbSNPrs121909528
ebirs121909528
HLIrs121909528
Exacrs121909528
Varsomers121909528
Maprs121909528
PheGenIrs121909528
hapmaprs121909528
1000 genomesrs121909528
hgdprs121909528
ensemblrs121909528
gopubmedrs121909528
geneviewrs121909528
scholarrs121909528
googlers121909528
pharmgkbrs121909528
gwascentralrs121909528
openSNPrs121909528
23andMers121909528
23andMe allrs121909528
SNP Nexus

SNPshotrs121909528
SNPdbers121909528
MSV3drs121909528
GWAS Ctlgrs121909528
Max Magnitude4
OMIM102610
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909528(C,G;C,G)
Alt rs121909528(C,G;C,G)
Reference rs121909528(A;A)
Significance Pathogenic
Disease Myopathy
Variation info
Gene ACTA1
CLNDBN Myopathy, actin, congenital, with cores
Reversed 1
HGVS NC_000001.10:g.229567373T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019950.28,