rs864622192
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 7 | Fanconi anemia, complementation group N |
(A;G) | 5 | PALB2-related cancer risk |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 23607863 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs864622192 |
dbSNP (classic) | rs864622192 |
ClinGen | rs864622192 |
ebi | rs864622192 |
HLI | rs864622192 |
Exac | rs864622192 |
Gnomad | rs864622192 |
Varsome | rs864622192 |
LitVar | rs864622192 |
Map | rs864622192 |
PheGenI | rs864622192 |
Biobank | rs864622192 |
1000 genomes | rs864622192 |
hgdp | rs864622192 |
ensembl | rs864622192 |
geneview | rs864622192 |
scholar | rs864622192 |
rs864622192 | |
pharmgkb | rs864622192 |
gwascentral | rs864622192 |
openSNP | rs864622192 |
23andMe | rs864622192 |
SNPshot | rs864622192 |
SNPdbe | rs864622192 |
MSV3d | rs864622192 |
GWAS Ctlg | rs864622192 |
Max Magnitude | 7 |
aka c.3350+1G>A
23andMe name: i723202
ClinVar | |
---|---|
Risk | Rs864622192(A;A) |
Alt | Rs864622192(A;A) |
Reference | Rs864622192(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial cancer of breast |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000016.9:g.23619184C>T |
CLNSRC | |
CLNACC | RCV000204129.1, |