rs709816
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs709816(A;G) |
Make rs709816(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 89955483 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs709816 |
dbSNP (classic) | rs709816 |
ClinGen | rs709816 |
ebi | rs709816 |
HLI | rs709816 |
Exac | rs709816 |
Gnomad | rs709816 |
Varsome | rs709816 |
LitVar | rs709816 |
Map | rs709816 |
PheGenI | rs709816 |
Biobank | rs709816 |
1000 genomes | rs709816 |
hgdp | rs709816 |
ensembl | rs709816 |
geneview | rs709816 |
scholar | rs709816 |
rs709816 | |
pharmgkb | rs709816 |
gwascentral | rs709816 |
openSNP | rs709816 |
23andMe | rs709816 |
SNPshot | rs709816 |
SNPdbe | rs709816 |
MSV3d | rs709816 |
GWAS Ctlg | rs709816 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 25176580] NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia
ClinVar | |
---|---|
Risk | rs709816(G;G) |
Alt | rs709816(G;G) |
Reference | Rs709816(A;A) |
Significance | Non-pathogenic |
Disease | Hereditary cancer-predisposing syndrome not specified Microcephaly |
Variation | info |
Gene | NBN |
CLNDBN | Hereditary cancer-predisposing syndrome not specified Microcephaly, normal intelligence and immunodeficiency |
Reversed | 0 |
HGVS | NC_000008.10:g.90967711A>G |
CLNSRC | |
CLNACC | RCV000162376.1, RCV000173761.2, RCV000322749.1, |