rs869248137
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.5 | Myofibrillar Myopathy |
Make rs869248137(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 119676479 |
Gene | BAG3 |
is a | snp |
is | mentioned by |
dbSNP | rs869248137 |
dbSNP (classic) | rs869248137 |
ClinGen | rs869248137 |
ebi | rs869248137 |
HLI | rs869248137 |
Exac | rs869248137 |
Gnomad | rs869248137 |
Varsome | rs869248137 |
LitVar | rs869248137 |
Map | rs869248137 |
PheGenI | rs869248137 |
Biobank | rs869248137 |
1000 genomes | rs869248137 |
hgdp | rs869248137 |
ensembl | rs869248137 |
geneview | rs869248137 |
scholar | rs869248137 |
rs869248137 | |
pharmgkb | rs869248137 |
gwascentral | rs869248137 |
openSNP | rs869248137 |
23andMe | rs869248137 |
SNPshot | rs869248137 |
SNPdbe | rs869248137 |
MSV3d | rs869248137 |
GWAS Ctlg | rs869248137 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs869248137(T;T) |
Alt | rs869248137(T;T) |
Reference | Rs869248137(C;C) |
Significance | Pathogenic |
Disease | Primary dilated cardiomyopathy not provided Dilated cardiomyopathy 1HH |
Variation | info |
Gene | BAG3 |
CLNDBN | Primary dilated cardiomyopathy not provided Dilated cardiomyopathy 1HH |
Reversed | 0 |
HGVS | NC_000010.10:g.121435991C>T |
CLNSRC | |
CLNACC | RCV000215224.1, RCV000414723.1, RCV000459684.1, |