rs193922683
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922683(C;T) |
Make rs193922683(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 21852457 |
Gene | ABCC9 |
is a | snp |
is | mentioned by |
dbSNP | rs193922683 |
dbSNP (classic) | rs193922683 |
ClinGen | rs193922683 |
ebi | rs193922683 |
HLI | rs193922683 |
Exac | rs193922683 |
Gnomad | rs193922683 |
Varsome | rs193922683 |
LitVar | rs193922683 |
Map | rs193922683 |
PheGenI | rs193922683 |
Biobank | rs193922683 |
1000 genomes | rs193922683 |
hgdp | rs193922683 |
ensembl | rs193922683 |
geneview | rs193922683 |
scholar | rs193922683 |
rs193922683 | |
pharmgkb | rs193922683 |
gwascentral | rs193922683 |
openSNP | rs193922683 |
23andMe | rs193922683 |
SNPshot | rs193922683 |
SNPdbe | rs193922683 |
MSV3d | rs193922683 |
GWAS Ctlg | rs193922683 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922683(T;T) |
Alt | rs193922683(T;T) |
Reference | Rs193922683(C;C) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | ABCC9 |
CLNDBN | Cardiomyopathy |
Reversed | 1 |
HGVS | NC_000012.11:g.22005391G>A |
CLNSRC | ClinVar |
CLNACC | RCV000029276.1, |