rs180177115
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 2 | Clinical significance is uncertain (wrt breast cancer) according to ClinVar |
(T;T) | 2 | Clinical significance is uncertain wrt breast cancer, according to ClinVar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23629231 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177115 |
dbSNP (classic) | rs180177115 |
ClinGen | rs180177115 |
ebi | rs180177115 |
HLI | rs180177115 |
Exac | rs180177115 |
Gnomad | rs180177115 |
Varsome | rs180177115 |
LitVar | rs180177115 |
Map | rs180177115 |
PheGenI | rs180177115 |
Biobank | rs180177115 |
1000 genomes | rs180177115 |
hgdp | rs180177115 |
ensembl | rs180177115 |
geneview | rs180177115 |
scholar | rs180177115 |
rs180177115 | |
pharmgkb | rs180177115 |
gwascentral | rs180177115 |
openSNP | rs180177115 |
23andMe | rs180177115 |
SNPshot | rs180177115 |
SNPdbe | rs180177115 |
MSV3d | rs180177115 |
GWAS Ctlg | rs180177115 |
Max Magnitude | 2 |
ClinVar | |
---|---|
Risk | Rs180177115(T;T) |
Alt | Rs180177115(T;T) |
Reference | Rs180177115(C;C) |
Significance | Other |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.23640552G>A |
CLNSRC | PALB2 database |
CLNACC | RCV000114536.1, RCV000116088.7, RCV000212813.1, |
[PMID 21285249] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.