rs201327273
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201327273(A;T) |
Make rs201327273(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 23403422 |
Gene | MYH6 |
is a | snp |
is | mentioned by |
dbSNP | rs201327273 |
dbSNP (classic) | rs201327273 |
ClinGen | rs201327273 |
ebi | rs201327273 |
HLI | rs201327273 |
Exac | rs201327273 |
Gnomad | rs201327273 |
Varsome | rs201327273 |
LitVar | rs201327273 |
Map | rs201327273 |
PheGenI | rs201327273 |
Biobank | rs201327273 |
1000 genomes | rs201327273 |
hgdp | rs201327273 |
ensembl | rs201327273 |
geneview | rs201327273 |
scholar | rs201327273 |
rs201327273 | |
pharmgkb | rs201327273 |
gwascentral | rs201327273 |
openSNP | rs201327273 |
23andMe | rs201327273 |
SNPshot | rs201327273 |
SNPdbe | rs201327273 |
MSV3d | rs201327273 |
GWAS Ctlg | rs201327273 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201327273(T;T) |
Alt | rs201327273(T;T) |
Reference | Rs201327273(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified Primary dilated cardiomyopathy Familial hypertrophic cardiomyopathy 14 |
Variation | info |
Gene | MYH6 |
CLNDBN | not specified Primary dilated cardiomyopathy Familial hypertrophic cardiomyopathy 14 |
Reversed | 0 |
HGVS | NC_000014.8:g.23872631A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000037541.2, RCV000171837.2, RCV000470174.1, |