rs180177136
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | 2-4 fold higher risk for breast cancer, depending on family history |
(G;G) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23607860 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177136 |
dbSNP (classic) | rs180177136 |
ClinGen | rs180177136 |
ebi | rs180177136 |
HLI | rs180177136 |
Exac | rs180177136 |
Gnomad | rs180177136 |
Varsome | rs180177136 |
LitVar | rs180177136 |
Map | rs180177136 |
PheGenI | rs180177136 |
Biobank | rs180177136 |
1000 genomes | rs180177136 |
hgdp | rs180177136 |
ensembl | rs180177136 |
geneview | rs180177136 |
scholar | rs180177136 |
rs180177136 | |
pharmgkb | rs180177136 |
gwascentral | rs180177136 |
openSNP | rs180177136 |
23andMe | rs180177136 |
SNPshot | rs180177136 |
SNPdbe | rs180177136 |
MSV3d | rs180177136 |
GWAS Ctlg | rs180177136 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs180177136(G;G) |
Alt | Rs180177136(G;G) |
Reference | Rs180177136(A;A) |
Significance | Other |
Disease | Familial cancer of breast Fanconi anemia Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Fanconi anemia, complementation group N Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.23619181T>C |
CLNSRC | PALB2 database |
CLNACC | RCV000114621.1, RCV000114622.1, RCV000213830.1, RCV000433683.1, |
[PMID 17200671] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.