rs397514043
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(G;G) | 0 | common in clinvar |
Make rs397514043(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31074730 |
Gene | DSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs397514043 |
dbSNP (classic) | rs397514043 |
ClinGen | rs397514043 |
ebi | rs397514043 |
HLI | rs397514043 |
Exac | rs397514043 |
Gnomad | rs397514043 |
Varsome | rs397514043 |
LitVar | rs397514043 |
Map | rs397514043 |
PheGenI | rs397514043 |
Biobank | rs397514043 |
1000 genomes | rs397514043 |
hgdp | rs397514043 |
ensembl | rs397514043 |
geneview | rs397514043 |
scholar | rs397514043 |
rs397514043 | |
pharmgkb | rs397514043 |
gwascentral | rs397514043 |
openSNP | rs397514043 |
23andMe | rs397514043 |
SNPshot | rs397514043 |
SNPdbe | rs397514043 |
MSV3d | rs397514043 |
GWAS Ctlg | rs397514043 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs397514043(-;-) |
Alt | rs397514043(-;-) |
Reference | Rs397514043(G;G) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular dysplasia |
Variation | info |
Gene | DSC2 |
CLNDBN | Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair |
Reversed | 1 |
HGVS | NC_000018.9:g.28654696delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024331.28, |