rs118203997
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 7 | Fanconi anemia, complementation group N |
(A;T) | 5 | PALB2-related cancer risk |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23634893 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs118203997 |
dbSNP (classic) | rs118203997 |
ClinGen | rs118203997 |
ebi | rs118203997 |
HLI | rs118203997 |
Exac | rs118203997 |
Gnomad | rs118203997 |
Varsome | rs118203997 |
LitVar | rs118203997 |
Map | rs118203997 |
PheGenI | rs118203997 |
Biobank | rs118203997 |
1000 genomes | rs118203997 |
hgdp | rs118203997 |
ensembl | rs118203997 |
geneview | rs118203997 |
scholar | rs118203997 |
rs118203997 | |
pharmgkb | rs118203997 |
gwascentral | rs118203997 |
openSNP | rs118203997 |
23andMe | rs118203997 |
SNPshot | rs118203997 |
SNPdbe | rs118203997 |
MSV3d | rs118203997 |
GWAS Ctlg | rs118203997 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs118203997(A;A) rs118203997(C;C) |
Alt | Rs118203997(A;A) rs118203997(C;C) |
Reference | Rs118203997(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Fanconi anemia not provided Familial cancer of breast |
Variation | info |
Gene | PALB2 |
CLNDBN | Hereditary cancer-predisposing syndrome Fanconi anemia, complementation group N not provided Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000016.9:g.23646214A>G; NC_000016.9:g.23646214A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000219143.1, RCV000001302.2, RCV000217204.1, RCV000235772.2, RCV000476387.1, |
[PMID 21285249] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.