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rs267606627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606627(C;T)
Make rs267606627(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position229432787
GeneACTA1
is asnp
is mentioned by
dbSNPrs267606627
ebirs267606627
HLIrs267606627
Exacrs267606627
Varsomers267606627
Maprs267606627
PheGenIrs267606627
hapmaprs267606627
1000 genomesrs267606627
hgdprs267606627
ensemblrs267606627
gopubmedrs267606627
geneviewrs267606627
scholarrs267606627
googlers267606627
pharmgkbrs267606627
gwascentralrs267606627
openSNPrs267606627
23andMers267606627
23andMe allrs267606627
SNP Nexus

SNPshotrs267606627
SNPdbers267606627
MSV3drs267606627
GWAS Ctlgrs267606627
Max Magnitude0
ClinVar
Risk rs267606627(T;T)
Alt rs267606627(T;T)
Reference rs267606627(C;C)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229568534G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019955.28,