rs398124374
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398124374(-;-) |
Make rs398124374(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 177210748 |
Gene | NSD1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124374 |
dbSNP (classic) | rs398124374 |
ClinGen | rs398124374 |
ebi | rs398124374 |
HLI | rs398124374 |
Exac | rs398124374 |
Gnomad | rs398124374 |
Varsome | rs398124374 |
LitVar | rs398124374 |
Map | rs398124374 |
PheGenI | rs398124374 |
Biobank | rs398124374 |
1000 genomes | rs398124374 |
hgdp | rs398124374 |
ensembl | rs398124374 |
geneview | rs398124374 |
scholar | rs398124374 |
rs398124374 | |
pharmgkb | rs398124374 |
gwascentral | rs398124374 |
openSNP | rs398124374 |
23andMe | rs398124374 |
SNPshot | rs398124374 |
SNPdbe | rs398124374 |
MSV3d | rs398124374 |
GWAS Ctlg | rs398124374 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124374(-;-) |
Alt | rs398124374(-;-) |
Reference | Rs398124374(A;A) |
Significance | Pathogenic |
Disease | not provided Sotos syndrome 1 |
Variation | info |
Gene | NSD1 |
CLNDBN | not provided Sotos syndrome 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.176637749delA |
CLNSRC | ClinVar |
CLNACC | RCV000082109.3, RCV000178991.1, |