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rs140126678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs140126678(A;G)
Make rs140126678(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position119186143
GeneMYOZ2
is asnp
is mentioned by
dbSNPrs140126678
ClinGenrs140126678
ebirs140126678
HLIrs140126678
Exacrs140126678
Varsomers140126678
Maprs140126678
PheGenIrs140126678
hapmaprs140126678
1000 genomesrs140126678
hgdprs140126678
ensemblrs140126678
gopubmedrs140126678
geneviewrs140126678
scholarrs140126678
googlers140126678
pharmgkbrs140126678
gwascentralrs140126678
openSNPrs140126678
23andMers140126678
23andMe allrs140126678
SNP Nexus

SNPshotrs140126678
SNPdbers140126678
MSV3drs140126678
GWAS Ctlgrs140126678
GMAF0.001837
Max Magnitude0
ClinVar
Risk rs140126678(G;G)
Alt rs140126678(G;G)
Reference Rs140126678(A;A)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 16 not provided not specified
Variation info
Gene MYOZ2
CLNDBN Familial hypertrophic cardiomyopathy 16 not provided not specified
Reversed 0
HGVS NC_000004.11:g.120107298A>G
CLNSRC Leiden Muscular Dystrophy pages (MYOZ2) OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023466.3, RCV000024477.1, RCV000039013.2,


[PMID 17347475OA-icon.png] Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.