rs200473206
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200473206(A;A) |
Make rs200473206(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 7555825 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs200473206 |
dbSNP (classic) | rs200473206 |
ClinGen | rs200473206 |
ebi | rs200473206 |
HLI | rs200473206 |
Exac | rs200473206 |
Gnomad | rs200473206 |
Varsome | rs200473206 |
LitVar | rs200473206 |
Map | rs200473206 |
PheGenI | rs200473206 |
Biobank | rs200473206 |
1000 genomes | rs200473206 |
hgdp | rs200473206 |
ensembl | rs200473206 |
geneview | rs200473206 |
scholar | rs200473206 |
rs200473206 | |
pharmgkb | rs200473206 |
gwascentral | rs200473206 |
openSNP | rs200473206 |
23andMe | rs200473206 |
SNPshot | rs200473206 |
SNPdbe | rs200473206 |
MSV3d | rs200473206 |
GWAS Ctlg | rs200473206 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200473206(A;A) |
Alt | rs200473206(A;A) |
Reference | Rs200473206(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Long QT syndrome Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSP |
CLNDBN | not specified Long QT syndrome Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma Arrhythmogenic right ventricular cardiomyopathy |
Reversed | 0 |
HGVS | NC_000006.11:g.7556058G>A |
CLNSRC | |
CLNACC | RCV000150557.4, RCV000157211.1, RCV000157212.1, RCV000232421.2, RCV000239152.1, |