Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913650

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913650(C;T)
Make rs121913650(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23415652
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs121913650
dbSNP (old)rs121913650
ClinGenrs121913650
ebirs121913650
HLIrs121913650
Exacrs121913650
Gnomadrs121913650
Varsomers121913650
Maprs121913650
PheGenIrs121913650
Biobankrs121913650
1000 genomesrs121913650
hgdprs121913650
ensemblrs121913650
gopubmedrs121913650
geneviewrs121913650
scholarrs121913650
googlers121913650
pharmgkbrs121913650
gwascentralrs121913650
openSNPrs121913650
23andMers121913650
23andMe allrs121913650
SNP Nexus

SNPshotrs121913650
SNPdbers121913650
MSV3drs121913650
GWAS Ctlgrs121913650
Max Magnitude0
OMIM160760
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121913650(T;T)
Alt rs121913650(T;T)
Reference Rs121913650(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene MYH7 MHRT
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000014.8:g.23884861G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015175.28, RCV000257929.2, RCV000480992.1,