rs144263721
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs144263721(C;C) |
Make rs144263721(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 7583581 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs144263721 |
dbSNP (classic) | rs144263721 |
ClinGen | rs144263721 |
ebi | rs144263721 |
HLI | rs144263721 |
Exac | rs144263721 |
Gnomad | rs144263721 |
Varsome | rs144263721 |
LitVar | rs144263721 |
Map | rs144263721 |
PheGenI | rs144263721 |
Biobank | rs144263721 |
1000 genomes | rs144263721 |
hgdp | rs144263721 |
ensembl | rs144263721 |
geneview | rs144263721 |
scholar | rs144263721 |
rs144263721 | |
pharmgkb | rs144263721 |
gwascentral | rs144263721 |
openSNP | rs144263721 |
23andMe | rs144263721 |
SNPshot | rs144263721 |
SNPdbe | rs144263721 |
MSV3d | rs144263721 |
GWAS Ctlg | rs144263721 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144263721(C;C) |
Alt | rs144263721(C;C) |
Reference | Rs144263721(G;G) |
Significance | Pathogenic |
Disease | not specified Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma |
Variation | info |
Gene | DSP |
CLNDBN | not specified Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma |
Reversed | 0 |
HGVS | NC_000006.11:g.7583814G>C |
CLNSRC | |
CLNACC | RCV000181388.3, RCV000472720.1, |