rs397515910
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs397515910(G;G) |
Make rs397515910(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47342627 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397515910 |
dbSNP (classic) | rs397515910 |
ClinGen | rs397515910 |
ebi | rs397515910 |
HLI | rs397515910 |
Exac | rs397515910 |
Gnomad | rs397515910 |
Varsome | rs397515910 |
LitVar | rs397515910 |
Map | rs397515910 |
PheGenI | rs397515910 |
Biobank | rs397515910 |
1000 genomes | rs397515910 |
hgdp | rs397515910 |
ensembl | rs397515910 |
geneview | rs397515910 |
scholar | rs397515910 |
rs397515910 | |
pharmgkb | rs397515910 |
gwascentral | rs397515910 |
openSNP | rs397515910 |
23andMe | rs397515910 |
SNPshot | rs397515910 |
SNPdbe | rs397515910 |
MSV3d | rs397515910 |
GWAS Ctlg | rs397515910 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397515910(A;A) rs397515910(G;G) |
Alt | rs397515910(A;A) rs397515910(G;G) |
Reference | Rs397515910(T;T) |
Significance | Other |
Disease | Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47364178A>C; NC_000011.9:g.47364178A>T |
CLNSRC | ClinVar |
CLNACC | RCV000035413.5, RCV000208299.1, |