rs121913630
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
Make rs121913630(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23425814 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs121913630 |
dbSNP (classic) | rs121913630 |
ClinGen | rs121913630 |
ebi | rs121913630 |
HLI | rs121913630 |
Exac | rs121913630 |
Gnomad | rs121913630 |
Varsome | rs121913630 |
LitVar | rs121913630 |
Map | rs121913630 |
PheGenI | rs121913630 |
Biobank | rs121913630 |
1000 genomes | rs121913630 |
hgdp | rs121913630 |
ensembl | rs121913630 |
geneview | rs121913630 |
scholar | rs121913630 |
rs121913630 | |
pharmgkb | rs121913630 |
gwascentral | rs121913630 |
openSNP | rs121913630 |
23andMe | rs121913630 |
SNPshot | rs121913630 |
SNPdbe | rs121913630 |
MSV3d | rs121913630 |
GWAS Ctlg | rs121913630 |
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 | rs121913630(G;G) rs121913630(T;T) |
Alt | rs121913630(G;G) rs121913630(T;T) |
Reference | Rs121913630(C;C) |
Significance | Pathogenic |
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.23895023G>A; NC_000014.8:g.23895023G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015151.29, RCV000035772.6, RCV000158516.3, RCV000253053.1, RCV000462477.1, RCV000035771.2, RCV000158837.3, RCV000201494.1, RCV000227196.2, |