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rs398122936

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122936(C;C)
Make rs398122936(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position229431727
GeneACTA1
is asnp
is mentioned by
dbSNPrs398122936
ebirs398122936
HLIrs398122936
Exacrs398122936
Varsomers398122936
Maprs398122936
PheGenIrs398122936
hapmaprs398122936
1000 genomesrs398122936
hgdprs398122936
ensemblrs398122936
gopubmedrs398122936
geneviewrs398122936
scholarrs398122936
googlers398122936
pharmgkbrs398122936
gwascentralrs398122936
openSNPrs398122936
23andMers398122936
23andMe allrs398122936
SNP Nexus

SNPshotrs398122936
SNPdbers398122936
MSV3drs398122936
GWAS Ctlgrs398122936
Max Magnitude0
ClinVar
Risk rs398122936(C;C)
Alt rs398122936(C;C)
Reference rs398122936(G;G)
Significance Pathogenic
Disease Nemaline myopathy 3
Variation info
Gene ACTA1
CLNDBN Nemaline myopathy 3
Reversed 1
HGVS NC_000001.10:g.229567474C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043506.29,