rs397515890
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;A) | 6 | Familial Hypertrophic Cardiomyopathy (possible) |
(G;G) | 0 | common in clinvar |
Make rs397515890(G;T) |
Make rs397515890(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47343527 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397515890 |
dbSNP (classic) | rs397515890 |
ClinGen | rs397515890 |
ebi | rs397515890 |
HLI | rs397515890 |
Exac | rs397515890 |
Gnomad | rs397515890 |
Varsome | rs397515890 |
LitVar | rs397515890 |
Map | rs397515890 |
PheGenI | rs397515890 |
Biobank | rs397515890 |
1000 genomes | rs397515890 |
hgdp | rs397515890 |
ensembl | rs397515890 |
geneview | rs397515890 |
scholar | rs397515890 |
rs397515890 | |
pharmgkb | rs397515890 |
gwascentral | rs397515890 |
openSNP | rs397515890 |
23andMe | rs397515890 |
SNPshot | rs397515890 |
SNPdbe | rs397515890 |
MSV3d | rs397515890 |
GWAS Ctlg | rs397515890 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397515890(A;A) rs397515890(T;T) |
Alt | rs397515890(A;A) rs397515890(T;T) |
Reference | Rs397515890(G;G) |
Significance | Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.47365078C>A; NC_000011.9:g.47365078C>T |
CLNSRC | |
CLNACC | RCV000035374.2, RCV000158467.1, |