rs730880081
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880081(A;A) |
Make rs730880081(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 7576307 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs730880081 |
dbSNP (classic) | rs730880081 |
ClinGen | rs730880081 |
ebi | rs730880081 |
HLI | rs730880081 |
Exac | rs730880081 |
Gnomad | rs730880081 |
Varsome | rs730880081 |
LitVar | rs730880081 |
Map | rs730880081 |
PheGenI | rs730880081 |
Biobank | rs730880081 |
1000 genomes | rs730880081 |
hgdp | rs730880081 |
ensembl | rs730880081 |
geneview | rs730880081 |
scholar | rs730880081 |
rs730880081 | |
pharmgkb | rs730880081 |
gwascentral | rs730880081 |
openSNP | rs730880081 |
23andMe | rs730880081 |
SNPshot | rs730880081 |
SNPdbe | rs730880081 |
MSV3d | rs730880081 |
GWAS Ctlg | rs730880081 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880081(A;A) rs730880081(T;T) |
Alt | rs730880081(A;A) rs730880081(T;T) |
Reference | Rs730880081(G;G) |
Significance | Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy not provided |
Variation | info |
Gene | DSP |
CLNDBN | Primary familial hypertrophic cardiomyopathy not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.7576540G>A; NC_000006.11:g.7576540G>T |
CLNSRC | |
CLNACC | RCV000157191.1, RCV000181304.1, |