rs730881868
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;GTTG) | 5 | PALB2-related cancer risk |
(GTTG;GTTG) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 23626338 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs730881868 |
dbSNP (classic) | rs730881868 |
ClinGen | rs730881868 |
ebi | rs730881868 |
HLI | rs730881868 |
Exac | rs730881868 |
Gnomad | rs730881868 |
Varsome | rs730881868 |
LitVar | rs730881868 |
Map | rs730881868 |
PheGenI | rs730881868 |
Biobank | rs730881868 |
1000 genomes | rs730881868 |
hgdp | rs730881868 |
ensembl | rs730881868 |
geneview | rs730881868 |
scholar | rs730881868 |
rs730881868 | |
pharmgkb | rs730881868 |
gwascentral | rs730881868 |
openSNP | rs730881868 |
23andMe | rs730881868 |
SNPshot | rs730881868 |
SNPdbe | rs730881868 |
MSV3d | rs730881868 |
GWAS Ctlg | rs730881868 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs730881868(GTTG;GTTG) |
Alt | Rs730881868(GTTG;GTTG) |
Reference | Rs730881868(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Familial cancer of breast |
Variation | info |
Gene | PALB2 |
CLNDBN | Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000016.9:g.23637660_23637663dupCAAC |
CLNSRC | |
CLNACC | RCV000160809.1, RCV000465671.1, |