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rs730880922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 Hypertrophic Cardiomyopathy possible
(T;T) 0 common in clinvar


Make rs730880922(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23431474
GeneMYH7
is asnp
is mentioned by
dbSNPrs730880922
dbSNP (old)rs730880922
ClinGenrs730880922
ebirs730880922
HLIrs730880922
Exacrs730880922
Gnomadrs730880922
Varsomers730880922
Maprs730880922
PheGenIrs730880922
Biobankrs730880922
1000 genomesrs730880922
hgdprs730880922
ensemblrs730880922
gopubmedrs730880922
geneviewrs730880922
scholarrs730880922
googlers730880922
pharmgkbrs730880922
gwascentralrs730880922
openSNPrs730880922
23andMers730880922
23andMe allrs730880922
SNP Nexus

SNPshotrs730880922
SNPdbers730880922
MSV3drs730880922
GWAS Ctlgrs730880922
Max Magnitude6

Invitae Labs has seen this variant in several people with Hypertrophic Cardiomyopathy. All ClinVar submitters believe this variant to be pathogenic based on computer modeling and similar variants in this region are pathogenic. [1]


ClinVar
Risk rs730880922(G;G)
Alt rs730880922(G;G)
Reference Rs730880922(T;T)
Significance Pathogenic
Disease not provided Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23900683A>C
CLNSRC
CLNACC RCV000158881.1, RCV000225905.2,