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rs199476398

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476398(C;C)
Make rs199476398(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position119150937
GeneMYOZ2
is asnp
is mentioned by
dbSNPrs199476398
ebirs199476398
HLIrs199476398
Exacrs199476398
Varsomers199476398
Maprs199476398
PheGenIrs199476398
hapmaprs199476398
1000 genomesrs199476398
hgdprs199476398
ensemblrs199476398
gopubmedrs199476398
geneviewrs199476398
scholarrs199476398
googlers199476398
pharmgkbrs199476398
gwascentralrs199476398
openSNPrs199476398
23andMers199476398
23andMe allrs199476398
SNP Nexus

SNPshotrs199476398
SNPdbers199476398
MSV3drs199476398
GWAS Ctlgrs199476398
Max Magnitude0
ClinVar
Risk rs199476398(C;C)
Alt rs199476398(C;C)
Reference rs199476398(T;T)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 16 not provided
Variation info
Gene MYOZ2
CLNDBN Familial hypertrophic cardiomyopathy 16 not provided
Reversed 0
HGVS NC_000004.11:g.120072092T>C
CLNSRC Leiden Muscular Dystrophy pages (MYOZ2) OMIM Allelic Variant
CLNACC RCV000023465.3, RCV000024476.1,


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