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rs869312739

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312739(G;T)
Make rs869312739(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position229432295
GeneACTA1
is asnp
is mentioned by
dbSNPrs869312739
ebirs869312739
HLIrs869312739
Exacrs869312739
Varsomers869312739
Maprs869312739
PheGenIrs869312739
hapmaprs869312739
1000 genomesrs869312739
hgdprs869312739
ensemblrs869312739
gopubmedrs869312739
geneviewrs869312739
scholarrs869312739
googlers869312739
pharmgkbrs869312739
gwascentralrs869312739
openSNPrs869312739
23andMers869312739
23andMe allrs869312739
SNP Nexus

SNPshotrs869312739
SNPdbers869312739
MSV3drs869312739
GWAS Ctlgrs869312739
Max Magnitude0
ClinVar
Risk rs869312739(T;T)
Alt rs869312739(T;T)
Reference rs869312739(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene ACTA1
CLNDBN Myopathy, scapulohumeroperoneal
Reversed 1
HGVS NC_000001.10:g.229568042C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210030.1,