rs796065350
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs796065350(C;C) |
Make rs796065350(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 40930649 |
Gene | DLL4 |
is a | snp |
is | mentioned by |
dbSNP | rs796065350 |
dbSNP (classic) | rs796065350 |
ClinGen | rs796065350 |
ebi | rs796065350 |
HLI | rs796065350 |
Exac | rs796065350 |
Gnomad | rs796065350 |
Varsome | rs796065350 |
LitVar | rs796065350 |
Map | rs796065350 |
PheGenI | rs796065350 |
Biobank | rs796065350 |
1000 genomes | rs796065350 |
hgdp | rs796065350 |
ensembl | rs796065350 |
geneview | rs796065350 |
scholar | rs796065350 |
rs796065350 | |
pharmgkb | rs796065350 |
gwascentral | rs796065350 |
openSNP | rs796065350 |
23andMe | rs796065350 |
SNPshot | rs796065350 |
SNPdbe | rs796065350 |
MSV3d | rs796065350 |
GWAS Ctlg | rs796065350 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065350(C;C) |
Alt | rs796065350(C;C) |
Reference | Rs796065350(G;G) |
Significance | Pathogenic |
Disease | Adams-Oliver syndrome Adams-Oliver syndrome 6 |
Variation | info |
Gene | DLL4 |
CLNDBN | Adams-Oliver syndrome Adams-Oliver syndrome 6 |
Reversed | 0 |
HGVS | NC_000015.9:g.41222847G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190441.1, RCV000195289.3, |