rs727504280
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs727504280(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 14 |
Position | 23431471 |
Gene | MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs727504280 |
dbSNP (classic) | rs727504280 |
ClinGen | rs727504280 |
ebi | rs727504280 |
HLI | rs727504280 |
Exac | rs727504280 |
Gnomad | rs727504280 |
Varsome | rs727504280 |
LitVar | rs727504280 |
Map | rs727504280 |
PheGenI | rs727504280 |
Biobank | rs727504280 |
1000 genomes | rs727504280 |
hgdp | rs727504280 |
ensembl | rs727504280 |
geneview | rs727504280 |
scholar | rs727504280 |
rs727504280 | |
pharmgkb | rs727504280 |
gwascentral | rs727504280 |
openSNP | rs727504280 |
23andMe | rs727504280 |
SNPshot | rs727504280 |
SNPdbe | rs727504280 |
MSV3d | rs727504280 |
GWAS Ctlg | rs727504280 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs727504280(C;C) |
Alt | rs727504280(C;C) |
Reference | Rs727504280(T;T) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23900680A>G |
CLNSRC | |
CLNACC | RCV000154286.2, |