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rs104893749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893749(A;A)
Make rs104893749(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position46859495
GeneMYL3
is asnp
is mentioned by
dbSNPrs104893749
ebirs104893749
HLIrs104893749
Exacrs104893749
Varsomers104893749
Maprs104893749
PheGenIrs104893749
hapmaprs104893749
1000 genomesrs104893749
hgdprs104893749
ensemblrs104893749
gopubmedrs104893749
geneviewrs104893749
scholarrs104893749
googlers104893749
pharmgkbrs104893749
gwascentralrs104893749
openSNPrs104893749
23andMers104893749
23andMe allrs104893749
SNP Nexus

SNPshotrs104893749
SNPdbers104893749
MSV3drs104893749
GWAS Ctlgrs104893749
Max Magnitude0
OMIM160790
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893749(A,T;A,T)
Alt rs104893749(A,T;A,T)
Reference rs104893749(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 8 not specified Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYL3
CLNDBN Familial hypertrophic cardiomyopathy 8 not specified Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000003.11:g.46900985C>T
CLNSRC Leiden Muscular Dystrophy pages (MYL3) OMIM Allelic Variant
CLNACC RCV000015106.22, RCV000036025.3, RCV000201878.1,


[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.