rs118203999
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(C;T) | 5 | PALB2-related cancer risk |
(T;T) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23623003 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs118203999 |
dbSNP (classic) | rs118203999 |
ClinGen | rs118203999 |
ebi | rs118203999 |
HLI | rs118203999 |
Exac | rs118203999 |
Gnomad | rs118203999 |
Varsome | rs118203999 |
LitVar | rs118203999 |
Map | rs118203999 |
PheGenI | rs118203999 |
Biobank | rs118203999 |
1000 genomes | rs118203999 |
hgdp | rs118203999 |
ensembl | rs118203999 |
geneview | rs118203999 |
scholar | rs118203999 |
rs118203999 | |
pharmgkb | rs118203999 |
gwascentral | rs118203999 |
openSNP | rs118203999 |
23andMe | rs118203999 |
SNPshot | rs118203999 |
SNPdbe | rs118203999 |
MSV3d | rs118203999 |
GWAS Ctlg | rs118203999 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs118203999(T;T) |
Alt | Rs118203999(T;T) |
Reference | Rs118203999(C;C) |
Significance | Other |
Disease | Fanconi anemia Breast cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PALB2 |
CLNDBN | Fanconi anemia, complementation group N Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.23634324G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001306.2, RCV000001307.2, RCV000129469.3, |
[PMID 21365267] PALB2 mutations in familial breast and pancreatic cancer.