rs397515884
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397515884(A;A) |
Make rs397515884(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47346258 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397515884 |
dbSNP (classic) | rs397515884 |
ClinGen | rs397515884 |
ebi | rs397515884 |
HLI | rs397515884 |
Exac | rs397515884 |
Gnomad | rs397515884 |
Varsome | rs397515884 |
LitVar | rs397515884 |
Map | rs397515884 |
PheGenI | rs397515884 |
Biobank | rs397515884 |
1000 genomes | rs397515884 |
hgdp | rs397515884 |
ensembl | rs397515884 |
geneview | rs397515884 |
scholar | rs397515884 |
rs397515884 | |
pharmgkb | rs397515884 |
gwascentral | rs397515884 |
openSNP | rs397515884 |
23andMe | rs397515884 |
SNPshot | rs397515884 |
SNPdbe | rs397515884 |
MSV3d | rs397515884 |
GWAS Ctlg | rs397515884 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515884(A;A) |
Alt | rs397515884(A;A) |
Reference | Rs397515884(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47367809C>T |
CLNSRC | |
CLNACC | RCV000035367.2, RCV000157306.1, |