rs727504355
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727504355(A;A) |
Make rs727504355(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23415267 |
Gene | MHRT, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs727504355 |
dbSNP (classic) | rs727504355 |
ClinGen | rs727504355 |
ebi | rs727504355 |
HLI | rs727504355 |
Exac | rs727504355 |
Gnomad | rs727504355 |
Varsome | rs727504355 |
LitVar | rs727504355 |
Map | rs727504355 |
PheGenI | rs727504355 |
Biobank | rs727504355 |
1000 genomes | rs727504355 |
hgdp | rs727504355 |
ensembl | rs727504355 |
geneview | rs727504355 |
scholar | rs727504355 |
rs727504355 | |
pharmgkb | rs727504355 |
gwascentral | rs727504355 |
openSNP | rs727504355 |
23andMe | rs727504355 |
SNPshot | rs727504355 |
SNPdbe | rs727504355 |
MSV3d | rs727504355 |
GWAS Ctlg | rs727504355 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504355(A;A) |
Alt | rs727504355(A;A) |
Reference | Rs727504355(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Familial hypertrophic cardiomyopathy 1 Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYH7 MHRT |
CLNDBN | not specified Familial hypertrophic cardiomyopathy 1 Left ventricular noncompaction cardiomyopathy Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000014.8:g.23884476C>T |
CLNSRC | Centenary Institute |
CLNACC | RCV000154483.3, RCV000172890.1, RCV000208237.1, RCV000464078.1, |