rs1048108
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1048108(C;T) |
| Make rs1048108(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 214809500 |
| Gene | BARD1, LOC101928103 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1048108 |
| dbSNP (classic) | rs1048108 |
| ClinGen | rs1048108 |
| ebi | rs1048108 |
| HLI | rs1048108 |
| Exac | rs1048108 |
| Gnomad | rs1048108 |
| Varsome | rs1048108 |
| LitVar | rs1048108 |
| Map | rs1048108 |
| PheGenI | rs1048108 |
| Biobank | rs1048108 |
| 1000 genomes | rs1048108 |
| hgdp | rs1048108 |
| ensembl | rs1048108 |
| geneview | rs1048108 |
| scholar | rs1048108 |
| rs1048108 | |
| pharmgkb | rs1048108 |
| gwascentral | rs1048108 |
| openSNP | rs1048108 |
| 23andMe | rs1048108 |
| SNPshot | rs1048108 |
| SNPdbe | rs1048108 |
| MSV3d | rs1048108 |
| GWAS Ctlg | rs1048108 |
| GMAF | 0.3471 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19412175
] Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
[PMID 19482343] Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: a case-control analysis.
| ClinVar | |
|---|---|
| Risk | rs1048108(T;T) |
| Alt | rs1048108(T;T) |
| Reference | Rs1048108(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Hereditary cancer-predisposing syndrome not specified Neoplasm of breast |
| Variation | info |
| Gene | LOC101928103 BARD1 |
| CLNDBN | Hereditary cancer-predisposing syndrome not specified Neoplasm of breast |
| Reversed | 1 |
| HGVS | NC_000002.11:g.215674224G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000162363.2, RCV000245618.1, RCV000372881.1, |
[PMID 30132831] Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor.
