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rs13010627

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs13010627(A;A)
Make rs13010627(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position201209375
GeneCASP10
is asnp
is mentioned by
dbSNPrs13010627
ebirs13010627
HLIrs13010627
Exacrs13010627
Varsomers13010627
Maprs13010627
PheGenIrs13010627
hapmaprs13010627
1000 genomesrs13010627
hgdprs13010627
ensemblrs13010627
gopubmedrs13010627
geneviewrs13010627
scholarrs13010627
googlers13010627
pharmgkbrs13010627
gwascentralrs13010627
openSNPrs13010627
23andMers13010627
23andMe allrs13010627
SNP Nexus

SNPshotrs13010627
SNPdbers13010627
MSV3drs13010627
GWAS Ctlgrs13010627
Merged fromRs17860404
GMAF0.02847
Max Magnitude0
? (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 19423537OA-icon.png]
OMIM603909
Desc
Variant
Relatedalso


ClinVar
Risk rs13010627(A;A)
Alt rs13010627(A;A)
Reference rs13010627(G;G)
Significance Pathogenic
Disease Autoimmune lymphoproliferative syndrome
Variation info
Gene CASP10
CLNDBN Autoimmune lymphoproliferative syndrome, type 2
Reversed 0
HGVS NC_000002.11:g.202074098G>A
CLNSRC GeneReviews
CLNACC RCV000020930.1,



[PMID 10412980] Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.


GET Evidence
CASP10-V410I
aa_change Val410Ile
aa_change_short V410I
impact protective
qualified_impact Low clinical importance, Likely protective
overall_frequency 0.0474066
summary Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).



[PMID 23212337] Role of CASP-10 gene polymorphisms in cancer susceptibility: a HuGE review and meta-analysis