rs762738069
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs762738069(A;C) |
Make rs762738069(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 219418761 |
Gene | DES |
is a | snp |
is | mentioned by |
dbSNP | rs762738069 |
dbSNP (classic) | rs762738069 |
ClinGen | rs762738069 |
ebi | rs762738069 |
HLI | rs762738069 |
Exac | rs762738069 |
Gnomad | rs762738069 |
Varsome | rs762738069 |
LitVar | rs762738069 |
Map | rs762738069 |
PheGenI | rs762738069 |
Biobank | rs762738069 |
1000 genomes | rs762738069 |
hgdp | rs762738069 |
ensembl | rs762738069 |
geneview | rs762738069 |
scholar | rs762738069 |
rs762738069 | |
pharmgkb | rs762738069 |
gwascentral | rs762738069 |
openSNP | rs762738069 |
23andMe | rs762738069 |
SNPshot | rs762738069 |
SNPdbe | rs762738069 |
MSV3d | rs762738069 |
GWAS Ctlg | rs762738069 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762738069(C;C) |
Alt | rs762738069(C;C) |
Reference | Rs762738069(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | DES |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.220283483A>C |
CLNSRC | |
CLNACC | RCV000183368.2, |