rs199728019
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199728019(C;T) |
Make rs199728019(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47341995 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs199728019 |
dbSNP (classic) | rs199728019 |
ClinGen | rs199728019 |
ebi | rs199728019 |
HLI | rs199728019 |
Exac | rs199728019 |
Gnomad | rs199728019 |
Varsome | rs199728019 |
LitVar | rs199728019 |
Map | rs199728019 |
PheGenI | rs199728019 |
Biobank | rs199728019 |
1000 genomes | rs199728019 |
hgdp | rs199728019 |
ensembl | rs199728019 |
geneview | rs199728019 |
scholar | rs199728019 |
rs199728019 | |
pharmgkb | rs199728019 |
gwascentral | rs199728019 |
openSNP | rs199728019 |
23andMe | rs199728019 |
SNPshot | rs199728019 |
SNPdbe | rs199728019 |
MSV3d | rs199728019 |
GWAS Ctlg | rs199728019 |
Max Magnitude | 0 |
[PMID 21511876] Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
ClinVar | |
---|---|
Risk | rs199728019(T;T) |
Alt | rs199728019(T;T) |
Reference | Rs199728019(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000011.9:g.47363546C>T |
CLNSRC | |
CLNACC | RCV000035433.5, RCV000157307.1, RCV000204737.1, RCV000250820.1, |