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rs199474703

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474703(A;A)
Make rs199474703(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position46860702
GeneMYL3
is asnp
is mentioned by
dbSNPrs199474703
ebirs199474703
HLIrs199474703
Exacrs199474703
Varsomers199474703
Maprs199474703
PheGenIrs199474703
hapmaprs199474703
1000 genomesrs199474703
hgdprs199474703
ensemblrs199474703
gopubmedrs199474703
geneviewrs199474703
scholarrs199474703
googlers199474703
pharmgkbrs199474703
gwascentralrs199474703
openSNPrs199474703
23andMers199474703
23andMe allrs199474703
SNP Nexus

SNPshotrs199474703
SNPdbers199474703
MSV3drs199474703
GWAS Ctlgrs199474703
Max Magnitude0
ClinVar
Risk rs199474703(A;A)
Alt rs199474703(A;A)
Reference rs199474703(G;G)
Significance Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL3
CLNDBN not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000003.11:g.46902192C>T
CLNSRC Leiden Muscular Dystrophy pages (MYL3)
CLNACC RCV000024468.2, RCV000036020.2,


[PMID 18409188] A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.