rs397516041
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516041(A;A) |
Make rs397516041(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47332089 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516041 |
dbSNP (classic) | rs397516041 |
ClinGen | rs397516041 |
ebi | rs397516041 |
HLI | rs397516041 |
Exac | rs397516041 |
Gnomad | rs397516041 |
Varsome | rs397516041 |
LitVar | rs397516041 |
Map | rs397516041 |
PheGenI | rs397516041 |
Biobank | rs397516041 |
1000 genomes | rs397516041 |
hgdp | rs397516041 |
ensembl | rs397516041 |
geneview | rs397516041 |
scholar | rs397516041 |
rs397516041 | |
pharmgkb | rs397516041 |
gwascentral | rs397516041 |
openSNP | rs397516041 |
23andMe | rs397516041 |
SNPshot | rs397516041 |
SNPdbe | rs397516041 |
MSV3d | rs397516041 |
GWAS Ctlg | rs397516041 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516041(A;A) |
Alt | rs397516041(A;A) |
Reference | Rs397516041(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47353640C>T |
CLNSRC | ClinVar |
CLNACC | RCV000035618.2, |