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rs104893748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893748(A;G)
Make rs104893748(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position46859511
GeneMYL3
is asnp
is mentioned by
dbSNPrs104893748
ebirs104893748
HLIrs104893748
Exacrs104893748
Varsomers104893748
Maprs104893748
PheGenIrs104893748
hapmaprs104893748
1000 genomesrs104893748
hgdprs104893748
ensemblrs104893748
gopubmedrs104893748
geneviewrs104893748
scholarrs104893748
googlers104893748
pharmgkbrs104893748
gwascentralrs104893748
openSNPrs104893748
23andMers104893748
23andMe allrs104893748
SNP Nexus

SNPshotrs104893748
SNPdbers104893748
MSV3drs104893748
GWAS Ctlgrs104893748
Max Magnitude0
OMIM160790
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893748(G;G)
Alt rs104893748(G;G)
Reference rs104893748(A;A)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 8 not provided Hypertrophic cardiomyopathy
Variation info
Gene MYL3
CLNDBN Familial hypertrophic cardiomyopathy 8 not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000003.11:g.46901001T>C
CLNSRC Leiden Muscular Dystrophy pages (MYL3) OMIM Allelic Variant
CLNACC RCV000015105.21, RCV000158948.2, RCV000168418.1,


[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.