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rs267606626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606626(G;T)
Make rs267606626(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position229432788
GeneACTA1
is asnp
is mentioned by
dbSNPrs267606626
ebirs267606626
HLIrs267606626
Exacrs267606626
Varsomers267606626
Maprs267606626
PheGenIrs267606626
hapmaprs267606626
1000 genomesrs267606626
hgdprs267606626
ensemblrs267606626
gopubmedrs267606626
geneviewrs267606626
scholarrs267606626
googlers267606626
pharmgkbrs267606626
gwascentralrs267606626
openSNPrs267606626
23andMers267606626
23andMe allrs267606626
SNP Nexus

SNPshotrs267606626
SNPdbers267606626
MSV3drs267606626
GWAS Ctlgrs267606626
Max Magnitude0
ClinVar
Risk rs267606626(T;T)
Alt rs267606626(T;T)
Reference rs267606626(G;G)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229568535C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019955.28,