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rs104894363

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894363(A;A)
Make rs104894363(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position110919160
GeneMYL2
is asnp
is mentioned by
dbSNPrs104894363
ebirs104894363
HLIrs104894363
Exacrs104894363
Varsomers104894363
Maprs104894363
PheGenIrs104894363
hapmaprs104894363
1000 genomesrs104894363
hgdprs104894363
ensemblrs104894363
gopubmedrs104894363
geneviewrs104894363
scholarrs104894363
googlers104894363
pharmgkbrs104894363
gwascentralrs104894363
openSNPrs104894363
23andMers104894363
23andMe allrs104894363
SNP Nexus

SNPshotrs104894363
SNPdbers104894363
MSV3drs104894363
GWAS Ctlgrs104894363
GMAF0.0
Max Magnitude0
OMIM160781
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894363(A;A)
Alt rs104894363(A;A)
Reference rs104894363(G;G)
Significance Other
Disease Familial hypertrophic cardiomyopathy 10 not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL2
CLNDBN Familial hypertrophic cardiomyopathy 10 not specified Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.111356964C>T
CLNSRC Leiden Muscular Dystrophy pages (MYL2) OMIM Allelic Variant
CLNACC RCV000015108.26, RCV000036401.3, RCV000148714.2,


[PMID 8673105] Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.


[PMID 11748309OA-icon.png] Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.


[PMID 15483641] One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.