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rs587780272

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587780272(A;A)
Make rs587780272(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position229432371
GeneACTA1
is asnp
is mentioned by
dbSNPrs587780272
ebirs587780272
HLIrs587780272
Exacrs587780272
Varsomers587780272
Maprs587780272
PheGenIrs587780272
hapmaprs587780272
1000 genomesrs587780272
hgdprs587780272
ensemblrs587780272
gopubmedrs587780272
geneviewrs587780272
scholarrs587780272
googlers587780272
pharmgkbrs587780272
gwascentralrs587780272
openSNPrs587780272
23andMers587780272
23andMe allrs587780272
SNP Nexus

SNPshotrs587780272
SNPdbers587780272
MSV3drs587780272
GWAS Ctlgrs587780272
Max Magnitude0
ClinVar
Risk rs587780272(A;A)
Alt rs587780272(A;A)
Reference rs587780272(C;C)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3, autosomal dominant or recessive
Reversed 1
HGVS NC_000001.10:g.229568118G>T
CLNSRC
CLNACC RCV000116221.1,