rs864622481
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 7 | Fanconi anemia, complementation group N |
(G;T) | 5 | PALB2-related cancer risk |
(T;T) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 23624007 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs864622481 |
dbSNP (classic) | rs864622481 |
ClinGen | rs864622481 |
ebi | rs864622481 |
HLI | rs864622481 |
Exac | rs864622481 |
Gnomad | rs864622481 |
Varsome | rs864622481 |
LitVar | rs864622481 |
Map | rs864622481 |
PheGenI | rs864622481 |
Biobank | rs864622481 |
1000 genomes | rs864622481 |
hgdp | rs864622481 |
ensembl | rs864622481 |
geneview | rs864622481 |
scholar | rs864622481 |
rs864622481 | |
pharmgkb | rs864622481 |
gwascentral | rs864622481 |
openSNP | rs864622481 |
23andMe | rs864622481 |
SNPshot | rs864622481 |
SNPdbe | rs864622481 |
MSV3d | rs864622481 |
GWAS Ctlg | rs864622481 |
Max Magnitude | 7 |
aka c.2834+2T>G
23andMe name: i723205
ClinVar | |
---|---|
Risk | Rs864622481(G;G) |
Alt | Rs864622481(G;G) |
Reference | Rs864622481(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial cancer of breast |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000016.9:g.23635328A>C |
CLNSRC | |
CLNACC | RCV000205865.1, |