rs180177110
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | PALB2-related cancer risk |
Make rs180177110(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23629897 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177110 |
dbSNP (classic) | rs180177110 |
ClinGen | rs180177110 |
ebi | rs180177110 |
HLI | rs180177110 |
Exac | rs180177110 |
Gnomad | rs180177110 |
Varsome | rs180177110 |
LitVar | rs180177110 |
Map | rs180177110 |
PheGenI | rs180177110 |
Biobank | rs180177110 |
1000 genomes | rs180177110 |
hgdp | rs180177110 |
ensembl | rs180177110 |
geneview | rs180177110 |
scholar | rs180177110 |
rs180177110 | |
pharmgkb | rs180177110 |
gwascentral | rs180177110 |
openSNP | rs180177110 |
23andMe | rs180177110 |
SNPshot | rs180177110 |
SNPdbe | rs180177110 |
MSV3d | rs180177110 |
GWAS Ctlg | rs180177110 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs180177110(A;A) rs180177110(T;T) |
Alt | rs180177110(A;A) rs180177110(T;T) |
Reference | Rs180177110(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Familial cancer of breast |
Variation | info |
Gene | PALB2 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000016.9:g.23641218G>A; NC_000016.9:g.23641218G>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000131502.3, RCV000236519.2, RCV000466579.1, RCV000221875.1, |
[PMID 19763884] A PALB2 germline mutation associated with hereditary breast cancer in Italy.