rs751942358
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs751942358(C;T) |
Make rs751942358(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 219421559 |
Gene | DES |
is a | snp |
is | mentioned by |
dbSNP | rs751942358 |
dbSNP (classic) | rs751942358 |
ClinGen | rs751942358 |
ebi | rs751942358 |
HLI | rs751942358 |
Exac | rs751942358 |
Gnomad | rs751942358 |
Varsome | rs751942358 |
LitVar | rs751942358 |
Map | rs751942358 |
PheGenI | rs751942358 |
Biobank | rs751942358 |
1000 genomes | rs751942358 |
hgdp | rs751942358 |
ensembl | rs751942358 |
geneview | rs751942358 |
scholar | rs751942358 |
rs751942358 | |
pharmgkb | rs751942358 |
gwascentral | rs751942358 |
openSNP | rs751942358 |
23andMe | rs751942358 |
SNPshot | rs751942358 |
SNPdbe | rs751942358 |
MSV3d | rs751942358 |
GWAS Ctlg | rs751942358 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751942358(T;T) |
Alt | rs751942358(T;T) |
Reference | Rs751942358(C;C) |
Significance | Pathogenic |
Disease | not specified |
Variation | info |
Gene | DES |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.220286281C>T |
CLNSRC | |
CLNACC | RCV000311592.2, |