rs121913638
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(G;G) | 0 | common in clinvar |
Make rs121913638(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23425980 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs121913638 |
dbSNP (classic) | rs121913638 |
ClinGen | rs121913638 |
ebi | rs121913638 |
HLI | rs121913638 |
Exac | rs121913638 |
Gnomad | rs121913638 |
Varsome | rs121913638 |
LitVar | rs121913638 |
Map | rs121913638 |
PheGenI | rs121913638 |
Biobank | rs121913638 |
1000 genomes | rs121913638 |
hgdp | rs121913638 |
ensembl | rs121913638 |
geneview | rs121913638 |
scholar | rs121913638 |
rs121913638 | |
pharmgkb | rs121913638 |
gwascentral | rs121913638 |
openSNP | rs121913638 |
23andMe | rs121913638 |
SNPshot | rs121913638 |
SNPdbe | rs121913638 |
MSV3d | rs121913638 |
GWAS Ctlg | rs121913638 |
Max Magnitude | 6.2 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].
ClinVar | |
---|---|
Risk | rs121913638(A;A) |
Alt | rs121913638(A;A) |
Reference | Rs121913638(G;G) |
Significance | Other |
Disease | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided not specified Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided not specified Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23895189C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015161.26, RCV000035767.2, RCV000158511.3, RCV000168863.2, RCV000233499.2, |