rs121912999
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.7 | Arrhythmogenic right ventricular dysplasia |
(G;G) | 0 | common in clinvar |
Make rs121912999(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 7585763 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs121912999 |
dbSNP (classic) | rs121912999 |
ClinGen | rs121912999 |
ebi | rs121912999 |
HLI | rs121912999 |
Exac | rs121912999 |
Gnomad | rs121912999 |
Varsome | rs121912999 |
LitVar | rs121912999 |
Map | rs121912999 |
PheGenI | rs121912999 |
Biobank | rs121912999 |
1000 genomes | rs121912999 |
hgdp | rs121912999 |
ensembl | rs121912999 |
geneview | rs121912999 |
scholar | rs121912999 |
rs121912999 | |
pharmgkb | rs121912999 |
gwascentral | rs121912999 |
openSNP | rs121912999 |
23andMe | rs121912999 |
SNPshot | rs121912999 |
SNPdbe | rs121912999 |
MSV3d | rs121912999 |
GWAS Ctlg | rs121912999 |
Max Magnitude | 6.7 |
ClinVar | |
---|---|
Risk | rs121912999(A;A) |
Alt | rs121912999(A;A) |
Reference | Rs121912999(G;G) |
Significance | Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy |
Variation | info |
Gene | DSP |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy, type 8 |
Reversed | 0 |
HGVS | NC_000006.11:g.7585996G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018341.28, |