rs180177090
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | Fanconi anemia, complementation group N |
(-;G) | 5 | PALB2-related cancer risk |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23635849 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177090 |
dbSNP (classic) | rs180177090 |
ClinGen | rs180177090 |
ebi | rs180177090 |
HLI | rs180177090 |
Exac | rs180177090 |
Gnomad | rs180177090 |
Varsome | rs180177090 |
LitVar | rs180177090 |
Map | rs180177090 |
PheGenI | rs180177090 |
Biobank | rs180177090 |
1000 genomes | rs180177090 |
hgdp | rs180177090 |
ensembl | rs180177090 |
geneview | rs180177090 |
scholar | rs180177090 |
rs180177090 | |
pharmgkb | rs180177090 |
gwascentral | rs180177090 |
openSNP | rs180177090 |
23andMe | rs180177090 |
SNPshot | rs180177090 |
SNPdbe | rs180177090 |
MSV3d | rs180177090 |
GWAS Ctlg | rs180177090 |
Max Magnitude | 7 |
aka c.697delG (p.Val233Leufs)
ClinVar | |
---|---|
Risk | Rs180177090(-;-) |
Alt | Rs180177090(-;-) |
Reference | Rs180177090(G;G) |
Significance | Pathogenic |
Disease | Familial cancer of breast not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.23647170delC |
CLNSRC | PALB2 database |
CLNACC | RCV000114653.2, RCV000481242.1, |
[PMID 19333784] PALB2 sequence variants in young South African breast cancer patients.