rs13010627
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs13010627(A;A) |
Make rs13010627(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 201209375 |
Gene | CASP10 |
is a | snp |
is | mentioned by |
dbSNP | rs13010627 |
dbSNP (classic) | rs13010627 |
ClinGen | rs13010627 |
ebi | rs13010627 |
HLI | rs13010627 |
Exac | rs13010627 |
Gnomad | rs13010627 |
Varsome | rs13010627 |
LitVar | rs13010627 |
Map | rs13010627 |
PheGenI | rs13010627 |
Biobank | rs13010627 |
1000 genomes | rs13010627 |
hgdp | rs13010627 |
ensembl | rs13010627 |
geneview | rs13010627 |
scholar | rs13010627 |
rs13010627 | |
pharmgkb | rs13010627 |
gwascentral | rs13010627 |
openSNP | rs13010627 |
23andMe | rs13010627 |
SNPshot | rs13010627 |
SNPdbe | rs13010627 |
MSV3d | rs13010627 |
GWAS Ctlg | rs13010627 |
Merged from | Rs17860404 |
GMAF | 0.02847 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
Previous studies had suggested that the minor allele of this SNP might influence breast cancer. However, a 2009 European study of 30,000 breast cancer cases, compared to 30,000 controls, found no association, or as they put it, "persuasive evidence against an overall association between invasive breast cancer risk and (this SNP)".[PMID 19423537]
ClinVar | |
---|---|
Risk | rs13010627(A;A) |
Alt | rs13010627(A;A) |
Reference | Rs13010627(G;G) |
Significance | Probable-non-pathogenic |
Disease | Autoimmune lymphoproliferative syndrome |
Variation | info |
Gene | CASP10 |
CLNDBN | Autoimmune lymphoproliferative syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.202074098G>A |
CLNSRC | GeneReviews |
CLNACC | RCV000279231.1, |
[PMID 10412980] Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.
[PMID 23212337] Role of CASP-10 gene polymorphisms in cancer susceptibility: a HuGE review and meta-analysis