Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894368

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894368(A;A)
Make rs104894368(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position110919133
GeneMYL2
is asnp
is mentioned by
dbSNPrs104894368
ebirs104894368
HLIrs104894368
Exacrs104894368
Varsomers104894368
Maprs104894368
PheGenIrs104894368
hapmaprs104894368
1000 genomesrs104894368
hgdprs104894368
ensemblrs104894368
gopubmedrs104894368
geneviewrs104894368
scholarrs104894368
googlers104894368
pharmgkbrs104894368
gwascentralrs104894368
openSNPrs104894368
23andMers104894368
23andMe allrs104894368
SNP Nexus

SNPshotrs104894368
SNPdbers104894368
MSV3drs104894368
GWAS Ctlgrs104894368
GMAF0.0
Max Magnitude0
OMIM160781
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894368(A,C,T;A,C,T)
Alt rs104894368(A,C,T;A,C,T)
Reference rs104894368(G;G)
Significance Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 10 Cardiomyopathy Primary familial hypertrophic cardiomyopathy Death in early adulthood
Variation info
Gene MYL2
CLNDBN not specified Familial hypertrophic cardiomyopathy 10 Cardiomyopathy Primary familial hypertrophic cardiomyopathy Death in early adulthood
Reversed 1
HGVS NC_000012.11:g.111356937C>A; NC_000012.11:g.111356937C>T
CLNSRC Leiden Muscular Dystrophy pages (MYL2) OMIM Allelic Variant
CLNACC RCV000158915.2, RCV000015109.28, RCV000158914.1, RCV000211732.1, RCV000234985.1,


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


[PMID 21896538] Genetic basis of end-stage hypertrophic cardiomyopathy.