rs587781891
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587781891(-;-) |
Make rs587781891(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 89982770 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs587781891 |
dbSNP (classic) | rs587781891 |
ClinGen | rs587781891 |
ebi | rs587781891 |
HLI | rs587781891 |
Exac | rs587781891 |
Gnomad | rs587781891 |
Varsome | rs587781891 |
LitVar | rs587781891 |
Map | rs587781891 |
PheGenI | rs587781891 |
Biobank | rs587781891 |
1000 genomes | rs587781891 |
hgdp | rs587781891 |
ensembl | rs587781891 |
geneview | rs587781891 |
scholar | rs587781891 |
rs587781891 | |
pharmgkb | rs587781891 |
gwascentral | rs587781891 |
openSNP | rs587781891 |
23andMe | rs587781891 |
SNPshot | rs587781891 |
SNPdbe | rs587781891 |
MSV3d | rs587781891 |
GWAS Ctlg | rs587781891 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781891(-;-) |
Alt | rs587781891(-;-) |
Reference | Rs587781891(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Microcephaly not provided |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not provided |
Reversed | 1 |
HGVS | NC_000008.10:g.90994998delG |
CLNSRC | |
CLNACC | RCV000130227.2, RCV000466522.1, RCV000482320.1, |