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rs587780271

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587780271(A;A)
Make rs587780271(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position229432597
GeneACTA1
is asnp
is mentioned by
dbSNPrs587780271
ebirs587780271
HLIrs587780271
Exacrs587780271
Varsomers587780271
Maprs587780271
PheGenIrs587780271
hapmaprs587780271
1000 genomesrs587780271
hgdprs587780271
ensemblrs587780271
gopubmedrs587780271
geneviewrs587780271
scholarrs587780271
googlers587780271
pharmgkbrs587780271
gwascentralrs587780271
openSNPrs587780271
23andMers587780271
23andMe allrs587780271
SNP Nexus

SNPshotrs587780271
SNPdbers587780271
MSV3drs587780271
GWAS Ctlgrs587780271
Max Magnitude0
ClinVar
Risk rs587780271(A;A)
Alt rs587780271(A;A)
Reference rs587780271(T;T)
Significance Probable-Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3, autosomal dominant or recessive
Reversed 1
HGVS NC_000001.10:g.229568344A>T
CLNSRC
CLNACC RCV000116220.1,