rs796065351
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs796065351(C;C) |
Make rs796065351(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 40931691 |
Gene | DLL4 |
is a | snp |
is | mentioned by |
dbSNP | rs796065351 |
dbSNP (classic) | rs796065351 |
ClinGen | rs796065351 |
ebi | rs796065351 |
HLI | rs796065351 |
Exac | rs796065351 |
Gnomad | rs796065351 |
Varsome | rs796065351 |
LitVar | rs796065351 |
Map | rs796065351 |
PheGenI | rs796065351 |
Biobank | rs796065351 |
1000 genomes | rs796065351 |
hgdp | rs796065351 |
ensembl | rs796065351 |
geneview | rs796065351 |
scholar | rs796065351 |
rs796065351 | |
pharmgkb | rs796065351 |
gwascentral | rs796065351 |
openSNP | rs796065351 |
23andMe | rs796065351 |
SNPshot | rs796065351 |
SNPdbe | rs796065351 |
MSV3d | rs796065351 |
GWAS Ctlg | rs796065351 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065351(C;C) |
Alt | rs796065351(C;C) |
Reference | Rs796065351(T;T) |
Significance | Pathogenic |
Disease | Adams-Oliver syndrome |
Variation | info |
Gene | DLL4 |
CLNDBN | Adams-Oliver syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.41223889T>C |
CLNSRC | |
CLNACC | RCV000190442.1, |