rs864622498
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common/normal |
(-;A) | 5 | PALB2-related cancer risk |
(A;A) | 7 | Fanconi anemia, complementation group N |
(D;D) | 0 | common genotype |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 23638084 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs864622498 |
dbSNP (classic) | rs864622498 |
ClinGen | rs864622498 |
ebi | rs864622498 |
HLI | rs864622498 |
Exac | rs864622498 |
Gnomad | rs864622498 |
Varsome | rs864622498 |
LitVar | rs864622498 |
Map | rs864622498 |
PheGenI | rs864622498 |
Biobank | rs864622498 |
1000 genomes | rs864622498 |
hgdp | rs864622498 |
ensembl | rs864622498 |
geneview | rs864622498 |
scholar | rs864622498 |
rs864622498 | |
pharmgkb | rs864622498 |
gwascentral | rs864622498 |
openSNP | rs864622498 |
23andMe | rs864622498 |
SNPshot | rs864622498 |
SNPdbe | rs864622498 |
MSV3d | rs864622498 |
GWAS Ctlg | rs864622498 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs864622498(A;A) |
Alt | Rs864622498(A;A) |
Reference | Rs864622498(-;-) |
Significance | Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.23649406dupT |
CLNSRC | |
CLNACC | RCV000204530.3, RCV000223136.1, RCV000236141.1, |