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rs1799943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1799943(A;A)
Make rs1799943(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316435
GeneBRCA2
is asnp
is mentioned by
dbSNPrs1799943
ebirs1799943
HLIrs1799943
Exacrs1799943
Varsomers1799943
Maprs1799943
PheGenIrs1799943
hapmaprs1799943
1000 genomesrs1799943
hgdprs1799943
ensemblrs1799943
gopubmedrs1799943
geneviewrs1799943
scholarrs1799943
googlers1799943
pharmgkbrs1799943
gwascentralrs1799943
openSNPrs1799943
23andMers1799943
23andMe allrs1799943
SNP Nexus

SNPshotrs1799943
SNPdbers1799943
MSV3drs1799943
GWAS Ctlgrs1799943
GMAF0.2185
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 22809218OA-icon.png] BRCA2 variants and cardiovascular disease in a multi-ethnic study


ClinVar
Risk rs1799943(A,C,T;A,C,T)
Alt rs1799943(A,C,T;A,C,T)
Reference rs1799943(G;G)
Significance Non-pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32890572G>A; NC_000013.10:g.32890572G>C; NC_000013.10:g.32890572G>T
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000112977.3, RCV000114981.1, RCV000112978.1, RCV000112979.1,



[PMID 12466288OA-icon.png] Haplotype and linkage disequilibrium architecture for human cancer-associated 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.


[PMID 23755158OA-icon.png] Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility