rs587782130
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587782130(C;T) |
Make rs587782130(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 89953615 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs587782130 |
dbSNP (classic) | rs587782130 |
ClinGen | rs587782130 |
ebi | rs587782130 |
HLI | rs587782130 |
Exac | rs587782130 |
Gnomad | rs587782130 |
Varsome | rs587782130 |
LitVar | rs587782130 |
Map | rs587782130 |
PheGenI | rs587782130 |
Biobank | rs587782130 |
1000 genomes | rs587782130 |
hgdp | rs587782130 |
ensembl | rs587782130 |
geneview | rs587782130 |
scholar | rs587782130 |
rs587782130 | |
pharmgkb | rs587782130 |
gwascentral | rs587782130 |
openSNP | rs587782130 |
23andMe | rs587782130 |
SNPshot | rs587782130 |
SNPdbe | rs587782130 |
MSV3d | rs587782130 |
GWAS Ctlg | rs587782130 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587782130(A;A) rs587782130(T;T) |
Alt | rs587782130(A;A) rs587782130(T;T) |
Reference | Rs587782130(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000008.10:g.90965843G>A; NC_000008.10:g.90965843G>T |
CLNSRC | |
CLNACC | RCV000130673.3, RCV000480769.1, RCV000213507.1, |