rs80358364
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80358364(-;-) |
Make rs80358364(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 36955599 |
Gene | NIPBL |
is a | snp |
is | mentioned by |
dbSNP | rs80358364 |
dbSNP (classic) | rs80358364 |
ClinGen | rs80358364 |
ebi | rs80358364 |
HLI | rs80358364 |
Exac | rs80358364 |
Gnomad | rs80358364 |
Varsome | rs80358364 |
LitVar | rs80358364 |
Map | rs80358364 |
PheGenI | rs80358364 |
Biobank | rs80358364 |
1000 genomes | rs80358364 |
hgdp | rs80358364 |
ensembl | rs80358364 |
geneview | rs80358364 |
scholar | rs80358364 |
rs80358364 | |
pharmgkb | rs80358364 |
gwascentral | rs80358364 |
openSNP | rs80358364 |
23andMe | rs80358364 |
SNPshot | rs80358364 |
SNPdbe | rs80358364 |
MSV3d | rs80358364 |
GWAS Ctlg | rs80358364 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358364(-;-) |
Alt | rs80358364(-;-) |
Reference | Rs80358364(G;G) |
Significance | Pathogenic |
Disease | Cornelia de Lange syndrome 1 |
Variation | info |
Gene | NIPBL |
CLNDBN | Cornelia de Lange syndrome 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.36955701delG |
CLNSRC | ClinVar University of Chicago |
CLNACC | RCV000086369.3, |