rs397516929
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(T;T) | 0 | common in clinvar |
Make rs397516929(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 7577860 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs397516929 |
dbSNP (classic) | rs397516929 |
ClinGen | rs397516929 |
ebi | rs397516929 |
HLI | rs397516929 |
Exac | rs397516929 |
Gnomad | rs397516929 |
Varsome | rs397516929 |
LitVar | rs397516929 |
Map | rs397516929 |
PheGenI | rs397516929 |
Biobank | rs397516929 |
1000 genomes | rs397516929 |
hgdp | rs397516929 |
ensembl | rs397516929 |
geneview | rs397516929 |
scholar | rs397516929 |
rs397516929 | |
pharmgkb | rs397516929 |
gwascentral | rs397516929 |
openSNP | rs397516929 |
23andMe | rs397516929 |
SNPshot | rs397516929 |
SNPdbe | rs397516929 |
MSV3d | rs397516929 |
GWAS Ctlg | rs397516929 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs397516929(A;A) rs397516929(C;C) |
Alt | rs397516929(A;A) rs397516929(C;C) |
Reference | Rs397516929(T;T) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSP |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 0 |
HGVS | NC_000006.11:g.7578093T>C |
CLNSRC | ClinVar |
CLNACC | RCV000038023.2, |