rs727503261
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs727503261(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23425774 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs727503261 |
dbSNP (classic) | rs727503261 |
ClinGen | rs727503261 |
ebi | rs727503261 |
HLI | rs727503261 |
Exac | rs727503261 |
Gnomad | rs727503261 |
Varsome | rs727503261 |
LitVar | rs727503261 |
Map | rs727503261 |
PheGenI | rs727503261 |
Biobank | rs727503261 |
1000 genomes | rs727503261 |
hgdp | rs727503261 |
ensembl | rs727503261 |
geneview | rs727503261 |
scholar | rs727503261 |
rs727503261 | |
pharmgkb | rs727503261 |
gwascentral | rs727503261 |
openSNP | rs727503261 |
23andMe | rs727503261 |
SNPshot | rs727503261 |
SNPdbe | rs727503261 |
MSV3d | rs727503261 |
GWAS Ctlg | rs727503261 |
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 | rs727503261(A;A) rs727503261(C;C) |
Alt | rs727503261(A;A) rs727503261(C;C) |
Reference | Rs727503261(T;T) |
Significance | Other |
Disease | Familial hypertrophic cardiomyopathy 1 not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy not specified |
Variation | info |
Gene | MYH7 |
CLNDBN | Familial hypertrophic cardiomyopathy 1 not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy not specified |
Reversed | 1 |
HGVS | NC_000014.8:g.23894983A>G; NC_000014.8:g.23894983A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000151279.5, RCV000158520.2, RCV000211833.1, RCV000471476.1, RCV000156209.1, |