rs193298428
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs193298428(A;C) |
Make rs193298428(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 31536259 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs193298428 |
dbSNP (classic) | rs193298428 |
ClinGen | rs193298428 |
ebi | rs193298428 |
HLI | rs193298428 |
Exac | rs193298428 |
Gnomad | rs193298428 |
Varsome | rs193298428 |
LitVar | rs193298428 |
Map | rs193298428 |
PheGenI | rs193298428 |
Biobank | rs193298428 |
1000 genomes | rs193298428 |
hgdp | rs193298428 |
ensembl | rs193298428 |
geneview | rs193298428 |
scholar | rs193298428 |
rs193298428 | |
pharmgkb | rs193298428 |
gwascentral | rs193298428 |
openSNP | rs193298428 |
23andMe | rs193298428 |
SNPshot | rs193298428 |
SNPdbe | rs193298428 |
MSV3d | rs193298428 |
GWAS Ctlg | rs193298428 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193298428(C;C) |
Alt | rs193298428(C;C) |
Reference | Rs193298428(A;A) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.29116222A>C |
CLNSRC | |
CLNACC | RCV000181219.1, |