rs878855077
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs878855077(-;-) |
Make rs878855077(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 177282566 |
Gene | NSD1 |
is a | snp |
is | mentioned by |
dbSNP | rs878855077 |
dbSNP (classic) | rs878855077 |
ClinGen | rs878855077 |
ebi | rs878855077 |
HLI | rs878855077 |
Exac | rs878855077 |
Gnomad | rs878855077 |
Varsome | rs878855077 |
LitVar | rs878855077 |
Map | rs878855077 |
PheGenI | rs878855077 |
Biobank | rs878855077 |
1000 genomes | rs878855077 |
hgdp | rs878855077 |
ensembl | rs878855077 |
geneview | rs878855077 |
scholar | rs878855077 |
rs878855077 | |
pharmgkb | rs878855077 |
gwascentral | rs878855077 |
openSNP | rs878855077 |
23andMe | rs878855077 |
SNPshot | rs878855077 |
SNPdbe | rs878855077 |
MSV3d | rs878855077 |
GWAS Ctlg | rs878855077 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878855077(-;-) |
Alt | rs878855077(-;-) |
Reference | Rs878855077(G;G) |
Significance | Pathogenic |
Disease | Beckwith-Wiedemann syndrome |
Variation | info |
Gene | NSD1 |
CLNDBN | Beckwith-Wiedemann syndrome |
Reversed | 0 |
HGVS | NC_000005.9:g.176709567delG |
CLNSRC | |
CLNACC | RCV000231983.1, |