rs1061302
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1061302(A;G) |
Make rs1061302(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 89946194 |
Gene | NBN |
is a | snp |
is | mentioned by |
dbSNP | rs1061302 |
dbSNP (classic) | rs1061302 |
ClinGen | rs1061302 |
ebi | rs1061302 |
HLI | rs1061302 |
Exac | rs1061302 |
Gnomad | rs1061302 |
Varsome | rs1061302 |
LitVar | rs1061302 |
Map | rs1061302 |
PheGenI | rs1061302 |
Biobank | rs1061302 |
1000 genomes | rs1061302 |
hgdp | rs1061302 |
ensembl | rs1061302 |
geneview | rs1061302 |
scholar | rs1061302 |
rs1061302 | |
pharmgkb | rs1061302 |
gwascentral | rs1061302 |
openSNP | rs1061302 |
23andMe | rs1061302 |
SNPshot | rs1061302 |
SNPdbe | rs1061302 |
MSV3d | rs1061302 |
GWAS Ctlg | rs1061302 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 24166361] Tobacco smoking, NBS1 polymorphisms, and survival in lung and upper aerodigestive tract cancers with semi-Bayes adjustment for hazard ratio variation
ClinVar | |
---|---|
Risk | rs1061302(G;G) |
Alt | rs1061302(G;G) |
Reference | Rs1061302(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 | 1 |
HGVS | NC_000008.10:g.90958422T>C |
CLNSRC | |
CLNACC | RCV000162357.1, RCV000243757.1, RCV000393183.1, |
[PMID 30799775] Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population.