rs180177098
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
(AA;TCT) | 3 | increased risk of breast cancer |
(TCT;TCT) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23635495 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177098 |
dbSNP (classic) | rs180177098 |
ClinGen | rs180177098 |
ebi | rs180177098 |
HLI | rs180177098 |
Exac | rs180177098 |
Gnomad | rs180177098 |
Varsome | rs180177098 |
LitVar | rs180177098 |
Map | rs180177098 |
PheGenI | rs180177098 |
Biobank | rs180177098 |
1000 genomes | rs180177098 |
hgdp | rs180177098 |
ensembl | rs180177098 |
geneview | rs180177098 |
scholar | rs180177098 |
rs180177098 | |
pharmgkb | rs180177098 |
gwascentral | rs180177098 |
openSNP | rs180177098 |
23andMe | rs180177098 |
SNPshot | rs180177098 |
SNPdbe | rs180177098 |
MSV3d | rs180177098 |
GWAS Ctlg | rs180177098 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs180177098(TCT;TCT) |
Alt | Rs180177098(TCT;TCT) |
Reference | Rs180177098(AA;AA) |
Significance | Pathogenic |
Disease | Familial cancer of breast |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000016.9:g.23646816_23646817delTTinsAGA |
CLNSRC | PALB2 database |
CLNACC | RCV000114455.1, |
[PMID 18446436] The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.