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rs141764279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141764279(G;T)
Make rs141764279(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23418398
GeneMYH7
is asnp
is mentioned by
dbSNPrs141764279
ebirs141764279
HLIrs141764279
Exacrs141764279
Varsomers141764279
Maprs141764279
PheGenIrs141764279
hapmaprs141764279
1000 genomesrs141764279
hgdprs141764279
ensemblrs141764279
gopubmedrs141764279
geneviewrs141764279
scholarrs141764279
googlers141764279
pharmgkbrs141764279
gwascentralrs141764279
openSNPrs141764279
23andMers141764279
23andMe allrs141764279
SNP Nexus

SNPshotrs141764279
SNPdbers141764279
MSV3drs141764279
GWAS Ctlgrs141764279
Max Magnitude0
ClinVar
Risk rs141764279(A,T;A,T)
Alt rs141764279(A,T;A,T)
Reference rs141764279(G;G)
Significance Other
Disease Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy
Variation info
Gene MYH7 MIR208B
CLNDBN Primary familial hypertrophic cardiomyopathy not specified Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000014.8:g.23887607G>T
CLNSRC ClinVar LabCorp University of Washington
CLNACC RCV000030319.4, RCV000035878.3, RCV000196240.2,


[PMID 15483641] One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.


[PMID 21310275OA-icon.png] Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.