rs121913627
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Familial hypertrophic cardiomyopathy (possible) |
(G;G) | 0 | common in clinvar |
Make rs121913627(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23427657 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs121913627 |
dbSNP (classic) | rs121913627 |
ClinGen | rs121913627 |
ebi | rs121913627 |
HLI | rs121913627 |
Exac | rs121913627 |
Gnomad | rs121913627 |
Varsome | rs121913627 |
LitVar | rs121913627 |
Map | rs121913627 |
PheGenI | rs121913627 |
Biobank | rs121913627 |
1000 genomes | rs121913627 |
hgdp | rs121913627 |
ensembl | rs121913627 |
geneview | rs121913627 |
scholar | rs121913627 |
rs121913627 | |
pharmgkb | rs121913627 |
gwascentral | rs121913627 |
openSNP | rs121913627 |
23andMe | rs121913627 |
SNPshot | rs121913627 |
SNPdbe | rs121913627 |
MSV3d | rs121913627 |
GWAS Ctlg | rs121913627 |
Max Magnitude | 6 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].
This mutation is reported to be one of the four most common HCM-associated in Finland.
ClinVar | |
---|---|
Risk | rs121913627(A;A) |
Alt | rs121913627(A;A) |
Reference | Rs121913627(G;G) |
Significance | Other |
Disease | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23896866C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015147.29, RCV000035750.6, RCV000223823.1, RCV000252267.1, RCV000473084.1, |