rs786203488
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | Fanconi anemia, complementation group N |
(-;GAAA) | 5 | PALB2-related cancer risk |
(GAAA;GAAA) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 23621468 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs786203488 |
dbSNP (classic) | rs786203488 |
ClinGen | rs786203488 |
ebi | rs786203488 |
HLI | rs786203488 |
Exac | rs786203488 |
Gnomad | rs786203488 |
Varsome | rs786203488 |
LitVar | rs786203488 |
Map | rs786203488 |
PheGenI | rs786203488 |
Biobank | rs786203488 |
1000 genomes | rs786203488 |
hgdp | rs786203488 |
ensembl | rs786203488 |
geneview | rs786203488 |
scholar | rs786203488 |
rs786203488 | |
pharmgkb | rs786203488 |
gwascentral | rs786203488 |
openSNP | rs786203488 |
23andMe | rs786203488 |
SNPshot | rs786203488 |
SNPdbe | rs786203488 |
MSV3d | rs786203488 |
GWAS Ctlg | rs786203488 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs786203488(-;-) |
Alt | Rs786203488(-;-) |
Reference | Rs786203488(GAAA;GAAA) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PALB2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.23632789_23632792delTTTC |
CLNSRC | |
CLNACC | RCV000166810.2, |