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

rs104894370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894370(C;C)
Make rs104894370(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position110919145
GeneMYL2
is asnp
is mentioned by
dbSNPrs104894370
ebirs104894370
HLIrs104894370
Exacrs104894370
Varsomers104894370
Maprs104894370
PheGenIrs104894370
hapmaprs104894370
1000 genomesrs104894370
hgdprs104894370
ensemblrs104894370
gopubmedrs104894370
geneviewrs104894370
scholarrs104894370
googlers104894370
pharmgkbrs104894370
gwascentralrs104894370
openSNPrs104894370
23andMers104894370
23andMe allrs104894370
SNP Nexus

SNPshotrs104894370
SNPdbers104894370
MSV3drs104894370
GWAS Ctlgrs104894370
Merged fromRs28932774
Max Magnitude0
OMIM160781
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894370(C;C)
Alt rs104894370(C;C)
Reference rs104894370(T;T)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 10
Variation info
Gene MYL2
CLNDBN Familial hypertrophic cardiomyopathy 10
Reversed 1
HGVS NC_000012.11:g.111356949A>G
CLNSRC Leiden Muscular Dystrophy pages (MYL2) OMIM Allelic Variant
CLNACC RCV000015112.25,


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