rs796065344
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796065344(C;T) |
Make rs796065344(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 40936647 |
Gene | DLL4 |
is a | snp |
is | mentioned by |
dbSNP | rs796065344 |
dbSNP (classic) | rs796065344 |
ClinGen | rs796065344 |
ebi | rs796065344 |
HLI | rs796065344 |
Exac | rs796065344 |
Gnomad | rs796065344 |
Varsome | rs796065344 |
LitVar | rs796065344 |
Map | rs796065344 |
PheGenI | rs796065344 |
Biobank | rs796065344 |
1000 genomes | rs796065344 |
hgdp | rs796065344 |
ensembl | rs796065344 |
geneview | rs796065344 |
scholar | rs796065344 |
rs796065344 | |
pharmgkb | rs796065344 |
gwascentral | rs796065344 |
openSNP | rs796065344 |
23andMe | rs796065344 |
SNPshot | rs796065344 |
SNPdbe | rs796065344 |
MSV3d | rs796065344 |
GWAS Ctlg | rs796065344 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065344(T;T) |
Alt | rs796065344(T;T) |
Reference | Rs796065344(C;C) |
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.41228845C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190434.1, RCV000195286.3, |