rs794728992
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794728992(C;G) |
Make rs794728992(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 219418757 |
Gene | DES |
is a | snp |
is | mentioned by |
dbSNP | rs794728992 |
dbSNP (classic) | rs794728992 |
ClinGen | rs794728992 |
ebi | rs794728992 |
HLI | rs794728992 |
Exac | rs794728992 |
Gnomad | rs794728992 |
Varsome | rs794728992 |
LitVar | rs794728992 |
Map | rs794728992 |
PheGenI | rs794728992 |
Biobank | rs794728992 |
1000 genomes | rs794728992 |
hgdp | rs794728992 |
ensembl | rs794728992 |
geneview | rs794728992 |
scholar | rs794728992 |
rs794728992 | |
pharmgkb | rs794728992 |
gwascentral | rs794728992 |
openSNP | rs794728992 |
23andMe | rs794728992 |
SNPshot | rs794728992 |
SNPdbe | rs794728992 |
MSV3d | rs794728992 |
GWAS Ctlg | rs794728992 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728992(G;G) |
Alt | rs794728992(G;G) |
Reference | Rs794728992(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | DES |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.220283479C>G |
CLNSRC | |
CLNACC | RCV000183367.2, |