rs574673404
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs574673404(C;T) |
Make rs574673404(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 89984524 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs574673404 |
dbSNP (classic) | rs574673404 |
ClinGen | rs574673404 |
ebi | rs574673404 |
HLI | rs574673404 |
Exac | rs574673404 |
Gnomad | rs574673404 |
Varsome | rs574673404 |
LitVar | rs574673404 |
Map | rs574673404 |
PheGenI | rs574673404 |
Biobank | rs574673404 |
1000 genomes | rs574673404 |
hgdp | rs574673404 |
ensembl | rs574673404 |
geneview | rs574673404 |
scholar | rs574673404 |
rs574673404 | |
pharmgkb | rs574673404 |
gwascentral | rs574673404 |
openSNP | rs574673404 |
23andMe | rs574673404 |
SNPshot | rs574673404 |
SNPdbe | rs574673404 |
MSV3d | rs574673404 |
GWAS Ctlg | rs574673404 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs574673404(T;T) |
Alt | rs574673404(T;T) |
Reference | Rs574673404(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Microcephaly |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency |
Reversed | 0 |
HGVS | NC_000008.10:g.90996752C>T |
CLNSRC | |
CLNACC | RCV000165888.3, RCV000470841.1, |