rs2230234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs2230234(A;G) |
Make rs2230234(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 31524751 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs2230234 |
dbSNP (classic) | rs2230234 |
ClinGen | rs2230234 |
ebi | rs2230234 |
HLI | rs2230234 |
Exac | rs2230234 |
Gnomad | rs2230234 |
Varsome | rs2230234 |
LitVar | rs2230234 |
Map | rs2230234 |
PheGenI | rs2230234 |
Biobank | rs2230234 |
1000 genomes | rs2230234 |
hgdp | rs2230234 |
ensembl | rs2230234 |
geneview | rs2230234 |
scholar | rs2230234 |
rs2230234 | |
pharmgkb | rs2230234 |
gwascentral | rs2230234 |
openSNP | rs2230234 |
23andMe | rs2230234 |
SNPshot | rs2230234 |
SNPdbe | rs2230234 |
MSV3d | rs2230234 |
GWAS Ctlg | rs2230234 |
GMAF | 0.03857 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2230234(G;G) rs2230234(T;T) |
Alt | rs2230234(G;G) rs2230234(T;T) |
Reference | Rs2230234(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified Cardiovascular phenotype Cardiomyopathy Dilated Cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | not specified Cardiovascular phenotype Cardiomyopathy, ARVC Dilated Cardiomyopathy, Dominant Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.29104714A>G; NC_000018.9:g.29104714A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000037319.5, RCV000254391.1, RCV000260352.1, RCV000371387.1, RCV000029672.3, RCV000212490.1, |