rs397516037
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516037(C;T) |
Make rs397516037(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47332189 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516037 |
dbSNP (classic) | rs397516037 |
ClinGen | rs397516037 |
ebi | rs397516037 |
HLI | rs397516037 |
Exac | rs397516037 |
Gnomad | rs397516037 |
Varsome | rs397516037 |
LitVar | rs397516037 |
Map | rs397516037 |
PheGenI | rs397516037 |
Biobank | rs397516037 |
1000 genomes | rs397516037 |
hgdp | rs397516037 |
ensembl | rs397516037 |
geneview | rs397516037 |
scholar | rs397516037 |
rs397516037 | |
pharmgkb | rs397516037 |
gwascentral | rs397516037 |
openSNP | rs397516037 |
23andMe | rs397516037 |
SNPshot | rs397516037 |
SNPdbe | rs397516037 |
MSV3d | rs397516037 |
GWAS Ctlg | rs397516037 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516037(T;T) |
Alt | rs397516037(T;T) |
Reference | Rs397516037(C;C) |
Significance | Pathogenic |
Disease | Familial hypertrophic cardiomyopathy 4 not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Familial hypertrophic cardiomyopathy 4 not provided Hypertrophic cardiomyopathy Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47353740G>A |
CLNSRC | Children's Hospital of Eastern Ontario University Hospital of Geneva |
CLNACC | RCV000035610.6, RCV000158254.4, RCV000168193.2, RCV000208463.1, |