rs117749531
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs117749531(A;A) |
Make rs117749531(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 119676794 |
Gene | BAG3 |
is a | snp |
is | mentioned by |
dbSNP | rs117749531 |
dbSNP (classic) | rs117749531 |
ClinGen | rs117749531 |
ebi | rs117749531 |
HLI | rs117749531 |
Exac | rs117749531 |
Gnomad | rs117749531 |
Varsome | rs117749531 |
LitVar | rs117749531 |
Map | rs117749531 |
PheGenI | rs117749531 |
Biobank | rs117749531 |
1000 genomes | rs117749531 |
hgdp | rs117749531 |
ensembl | rs117749531 |
geneview | rs117749531 |
scholar | rs117749531 |
rs117749531 | |
pharmgkb | rs117749531 |
gwascentral | rs117749531 |
openSNP | rs117749531 |
23andMe | rs117749531 |
SNPshot | rs117749531 |
SNPdbe | rs117749531 |
MSV3d | rs117749531 |
GWAS Ctlg | rs117749531 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs117749531(A;A) rs117749531(T;T) |
Alt | rs117749531(A;A) rs117749531(T;T) |
Reference | Rs117749531(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Myofibrillar Myopathy Dilated Cardiomyopathy Dilated cardiomyopathy 1HH |
Variation | info |
Gene | BAG3 |
CLNDBN | not specified Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Dilated cardiomyopathy 1HH |
Reversed | 0 |
HGVS | NC_000010.10:g.121436306G>A; NC_000010.10:g.121436306G>T |
CLNSRC | |
CLNACC | RCV000150185.1, RCV000296394.1, RCV000335067.1, RCV000458004.1, |