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rs104894369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894369(A;A)
Make rs104894369(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position110914287
GeneMYL2
is asnp
is mentioned by
dbSNPrs104894369
ebirs104894369
HLIrs104894369
Exacrs104894369
Varsomers104894369
Maprs104894369
PheGenIrs104894369
hapmaprs104894369
1000 genomesrs104894369
hgdprs104894369
ensemblrs104894369
gopubmedrs104894369
geneviewrs104894369
scholarrs104894369
googlers104894369
pharmgkbrs104894369
gwascentralrs104894369
openSNPrs104894369
23andMers104894369
23andMe allrs104894369
SNP Nexus

SNPshotrs104894369
SNPdbers104894369
MSV3drs104894369
GWAS Ctlgrs104894369
Merged fromRs28933099
Max Magnitude0
OMIM160781
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894369(A;A)
Alt rs104894369(A;A)
Reference rs104894369(G;G)
Significance Other
Disease Familial hypertrophic cardiomyopathy 10 Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYL2
CLNDBN Familial hypertrophic cardiomyopathy 10 Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000012.11:g.111352091C>T
CLNSRC Leiden Muscular Dystrophy pages (MYL2) OMIM Allelic Variant
CLNACC RCV000015111.27, RCV000157369.1, RCV000158923.2,


[PMID 9535554] Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.


[PMID 12404107] Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.


[PMID 12707239] Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.


[PMID 12818575] Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.


[PMID 18533079] Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.