rs1057518920
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057518920(A;A) |
Make rs1057518920(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 7575386 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs1057518920 |
dbSNP (classic) | rs1057518920 |
ClinGen | rs1057518920 |
ebi | rs1057518920 |
HLI | rs1057518920 |
Exac | rs1057518920 |
Gnomad | rs1057518920 |
Varsome | rs1057518920 |
LitVar | rs1057518920 |
Map | rs1057518920 |
PheGenI | rs1057518920 |
Biobank | rs1057518920 |
1000 genomes | rs1057518920 |
hgdp | rs1057518920 |
ensembl | rs1057518920 |
geneview | rs1057518920 |
scholar | rs1057518920 |
rs1057518920 | |
pharmgkb | rs1057518920 |
gwascentral | rs1057518920 |
openSNP | rs1057518920 |
23andMe | rs1057518920 |
SNPshot | rs1057518920 |
SNPdbe | rs1057518920 |
MSV3d | rs1057518920 |
GWAS Ctlg | rs1057518920 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518920(A;A) |
Alt | rs1057518920(A;A) |
Reference | Rs1057518920(C;C) |
Significance | Pathogenic |
Disease | Aortic dilatation Arrhythmia Bicuspid aortic valve Sudden cardiac death Ventricular fibrillation |
Variation | info |
Gene | DSP |
CLNDBN | Aortic dilatation Arrhythmia Bicuspid aortic valve Sudden cardiac death Ventricular fibrillation |
Reversed | 0 |
HGVS | NC_000006.11:g.7575619C>A |
CLNSRC | |
CLNACC | RCV000415085.1, |