rs863225269
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863225269(-;C) |
Make rs863225269(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 23392970 |
Gene | MYH6 |
is a | snp |
is | mentioned by |
dbSNP | rs863225269 |
dbSNP (classic) | rs863225269 |
ClinGen | rs863225269 |
ebi | rs863225269 |
HLI | rs863225269 |
Exac | rs863225269 |
Gnomad | rs863225269 |
Varsome | rs863225269 |
LitVar | rs863225269 |
Map | rs863225269 |
PheGenI | rs863225269 |
Biobank | rs863225269 |
1000 genomes | rs863225269 |
hgdp | rs863225269 |
ensembl | rs863225269 |
geneview | rs863225269 |
scholar | rs863225269 |
rs863225269 | |
pharmgkb | rs863225269 |
gwascentral | rs863225269 |
openSNP | rs863225269 |
23andMe | rs863225269 |
SNPshot | rs863225269 |
SNPdbe | rs863225269 |
MSV3d | rs863225269 |
GWAS Ctlg | rs863225269 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225269(C;C) |
Alt | rs863225269(C;C) |
Reference | Rs863225269(-;-) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 1 |
Variation | info |
Gene | MYH6 |
CLNDBN | Familial hypertrophic cardiomyopathy 1 |
Reversed | 1 |
HGVS | NC_000014.8:g.23862180dupG |
CLNSRC | |
CLNACC | RCV000201905.1, |