rs587782147
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587782147(-;-) |
Make rs587782147(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 89981512 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs587782147 |
dbSNP (classic) | rs587782147 |
ClinGen | rs587782147 |
ebi | rs587782147 |
HLI | rs587782147 |
Exac | rs587782147 |
Gnomad | rs587782147 |
Varsome | rs587782147 |
LitVar | rs587782147 |
Map | rs587782147 |
PheGenI | rs587782147 |
Biobank | rs587782147 |
1000 genomes | rs587782147 |
hgdp | rs587782147 |
ensembl | rs587782147 |
geneview | rs587782147 |
scholar | rs587782147 |
rs587782147 | |
pharmgkb | rs587782147 |
gwascentral | rs587782147 |
openSNP | rs587782147 |
23andMe | rs587782147 |
SNPshot | rs587782147 |
SNPdbe | rs587782147 |
MSV3d | rs587782147 |
GWAS Ctlg | rs587782147 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587782147(-;-) |
Alt | rs587782147(-;-) |
Reference | Rs587782147(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000008.10:g.90993740delA |
CLNSRC | |
CLNACC | RCV000130711.2, |