rs587784114
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587784114(-;-) |
Make rs587784114(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 177244268 |
Gene | NSD1 |
is a | snp |
is | mentioned by |
dbSNP | rs587784114 |
dbSNP (classic) | rs587784114 |
ClinGen | rs587784114 |
ebi | rs587784114 |
HLI | rs587784114 |
Exac | rs587784114 |
Gnomad | rs587784114 |
Varsome | rs587784114 |
LitVar | rs587784114 |
Map | rs587784114 |
PheGenI | rs587784114 |
Biobank | rs587784114 |
1000 genomes | rs587784114 |
hgdp | rs587784114 |
ensembl | rs587784114 |
geneview | rs587784114 |
scholar | rs587784114 |
rs587784114 | |
pharmgkb | rs587784114 |
gwascentral | rs587784114 |
openSNP | rs587784114 |
23andMe | rs587784114 |
SNPshot | rs587784114 |
SNPdbe | rs587784114 |
MSV3d | rs587784114 |
GWAS Ctlg | rs587784114 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784114(-;-) |
Alt | rs587784114(-;-) |
Reference | Rs587784114(G;G) |
Significance | Pathogenic |
Disease | Sotos syndrome 1 |
Variation | info |
Gene | NSD1 |
CLNDBN | Sotos syndrome 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.176671269delG |
CLNSRC | |
CLNACC | RCV000146830.1, |