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rs104893750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893750(A;A)
Make rs104893750(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position46859529
GeneMYL3
is asnp
is mentioned by
dbSNPrs104893750
ebirs104893750
HLIrs104893750
Exacrs104893750
Varsomers104893750
Maprs104893750
PheGenIrs104893750
hapmaprs104893750
1000 genomesrs104893750
hgdprs104893750
ensemblrs104893750
gopubmedrs104893750
geneviewrs104893750
scholarrs104893750
googlers104893750
pharmgkbrs104893750
gwascentralrs104893750
openSNPrs104893750
23andMers104893750
23andMe allrs104893750
SNP Nexus

SNPshotrs104893750
SNPdbers104893750
MSV3drs104893750
GWAS Ctlgrs104893750
Max Magnitude0
OMIM160790
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893750(A;A)
Alt rs104893750(A;A)
Reference rs104893750(G;G)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 8 not specified Hypertrophic cardiomyopathy
Variation info
Gene MYL3
CLNDBN Familial hypertrophic cardiomyopathy 8 not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000003.11:g.46901019C>T
CLNSRC Leiden Muscular Dystrophy pages (MYL3) OMIM Allelic Variant
CLNACC RCV000015107.22, RCV000036022.4, RCV000199993.2,


[PMID 12021217] Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.