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rs1801406

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 0 benign variant
(G;G) 0 benign variant
ReferenceGRCh38 38.1/141
Chromosome13
Position32337751
GeneBRCA2
is asnp
is mentioned by
dbSNPrs1801406
ebirs1801406
HLIrs1801406
Exacrs1801406
Varsomers1801406
Maprs1801406
PheGenIrs1801406
hapmaprs1801406
1000 genomesrs1801406
hgdprs1801406
ensemblrs1801406
gopubmedrs1801406
geneviewrs1801406
scholarrs1801406
googlers1801406
pharmgkbrs1801406
gwascentralrs1801406
openSNPrs1801406
23andMers1801406
23andMe allrs1801406
SNP Nexus

SNPshotrs1801406
SNPdbers1801406
MSV3drs1801406
GWAS Ctlgrs1801406
GMAF0.2787
Max Magnitude0

rs1801406, also known as c.3396A>C, p.Lys1132Asn and K1132N, is a variant in the BRCA2 gene classified as benign in ClinVar.

? (A;A) (A;G) (G;G) 28
[PMID 19902366OA-icon.png] Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study


[PMID 21346221] Risk of acute promyelocytic leukemia in multiple sclerosis: coding variants of DNA repair genes


ClinVar
Risk rs1801406(C,G;C,G)
Alt rs1801406(C,G;C,G)
Reference rs1801406(A;A)
Significance Non-pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not specified
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not specified
Reversed 0
HGVS NC_000013.10:g.32911888A>C; NC_000013.10:g.32911888A>G
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113169.1, RCV000113170.4, RCV000114982.2, RCV000130987.2, RCV000152873.3,



[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.


[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


[PMID 19644020OA-icon.png] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.