rs190228518
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;G) | 6 | Familial Hypertrophic Cardiomyopathy (possible) |
Make rs190228518(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 47343070 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs190228518 |
dbSNP (classic) | rs190228518 |
ClinGen | rs190228518 |
ebi | rs190228518 |
HLI | rs190228518 |
Exac | rs190228518 |
Gnomad | rs190228518 |
Varsome | rs190228518 |
LitVar | rs190228518 |
Map | rs190228518 |
PheGenI | rs190228518 |
Biobank | rs190228518 |
1000 genomes | rs190228518 |
hgdp | rs190228518 |
ensembl | rs190228518 |
geneview | rs190228518 |
scholar | rs190228518 |
rs190228518 | |
pharmgkb | rs190228518 |
gwascentral | rs190228518 |
openSNP | rs190228518 |
23andMe | rs190228518 |
SNPshot | rs190228518 |
SNPdbe | rs190228518 |
MSV3d | rs190228518 |
GWAS Ctlg | rs190228518 |
Max Magnitude | 6.2 |
[PMID 24704860] Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.
ClinVar | |
---|---|
Risk | rs190228518(A;A) rs190228518(T;T) |
Alt | rs190228518(A;A) rs190228518(T;T) |
Reference | Rs190228518(G;G) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 1 |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Familial hypertrophic cardiomyopathy 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.47364621G>T |
CLNSRC | |
CLNACC | RCV000201869.1, |