rs1800565
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1800565(A;A) |
Make rs1800565(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47339757 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs1800565 |
dbSNP (classic) | rs1800565 |
ClinGen | rs1800565 |
ebi | rs1800565 |
HLI | rs1800565 |
Exac | rs1800565 |
Gnomad | rs1800565 |
Varsome | rs1800565 |
LitVar | rs1800565 |
Map | rs1800565 |
PheGenI | rs1800565 |
Biobank | rs1800565 |
1000 genomes | rs1800565 |
hgdp | rs1800565 |
ensembl | rs1800565 |
geneview | rs1800565 |
scholar | rs1800565 |
rs1800565 | |
pharmgkb | rs1800565 |
gwascentral | rs1800565 |
openSNP | rs1800565 |
23andMe | rs1800565 |
SNPshot | rs1800565 |
SNPdbe | rs1800565 |
MSV3d | rs1800565 |
GWAS Ctlg | rs1800565 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1800565(A;A) |
Alt | rs1800565(A;A) |
Reference | Rs1800565(G;G) |
Significance | Pathogenic |
Disease | not specified Cardiovascular phenotype Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Cardiovascular phenotype Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47361308C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000035456.2, RCV000251228.1, RCV000465385.1, |