rs587784169
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587784169(A;A) |
Make rs587784169(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 177282523 |
Gene | NSD1 |
is a | snp |
is | mentioned by |
dbSNP | rs587784169 |
dbSNP (classic) | rs587784169 |
ClinGen | rs587784169 |
ebi | rs587784169 |
HLI | rs587784169 |
Exac | rs587784169 |
Gnomad | rs587784169 |
Varsome | rs587784169 |
LitVar | rs587784169 |
Map | rs587784169 |
PheGenI | rs587784169 |
Biobank | rs587784169 |
1000 genomes | rs587784169 |
hgdp | rs587784169 |
ensembl | rs587784169 |
geneview | rs587784169 |
scholar | rs587784169 |
rs587784169 | |
pharmgkb | rs587784169 |
gwascentral | rs587784169 |
openSNP | rs587784169 |
23andMe | rs587784169 |
SNPshot | rs587784169 |
SNPdbe | rs587784169 |
MSV3d | rs587784169 |
GWAS Ctlg | rs587784169 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784169(A;A) rs587784169(C;C) |
Alt | rs587784169(A;A) rs587784169(C;C) |
Reference | Rs587784169(G;G) |
Significance | Pathogenic |
Disease | Sotos syndrome 1 not provided |
Variation | info |
Gene | NSD1 |
CLNDBN | Sotos syndrome 1 not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.176709524G>A; NC_000005.9:g.176709524G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000146898.1, RCV000405920.1, RCV000489406.1, |