rs34738426
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34738426(G;T) |
Make rs34738426(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 7581514 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs34738426 |
dbSNP (classic) | rs34738426 |
ClinGen | rs34738426 |
ebi | rs34738426 |
HLI | rs34738426 |
Exac | rs34738426 |
Gnomad | rs34738426 |
Varsome | rs34738426 |
LitVar | rs34738426 |
Map | rs34738426 |
PheGenI | rs34738426 |
Biobank | rs34738426 |
1000 genomes | rs34738426 |
hgdp | rs34738426 |
ensembl | rs34738426 |
geneview | rs34738426 |
scholar | rs34738426 |
rs34738426 | |
pharmgkb | rs34738426 |
gwascentral | rs34738426 |
openSNP | rs34738426 |
23andMe | rs34738426 |
SNPshot | rs34738426 |
SNPdbe | rs34738426 |
MSV3d | rs34738426 |
GWAS Ctlg | rs34738426 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34738426(T;T) |
Alt | rs34738426(T;T) |
Reference | Rs34738426(G;G) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma |
Variation | info |
Gene | DSP |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy not specified Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma |
Reversed | 0 |
HGVS | NC_000006.11:g.7581747G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000148479.3, RCV000215521.1, RCV000460497.1, |