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rs80359310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359310(-;-)
Make rs80359310(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32333292
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359310
ebirs80359310
HLIrs80359310
Exacrs80359310
Varsomers80359310
Maprs80359310
PheGenIrs80359310
hapmaprs80359310
1000 genomesrs80359310
hgdprs80359310
ensemblrs80359310
gopubmedrs80359310
geneviewrs80359310
scholarrs80359310
googlers80359310
pharmgkbrs80359310
gwascentralrs80359310
openSNPrs80359310
23andMers80359310
23andMe allrs80359310
SNP Nexus

SNPshotrs80359310
SNPdbers80359310
MSV3drs80359310
GWAS Ctlgrs80359310
Max Magnitude6
rs80359310, also known as 2042insA, c.1814_1815insA and p.Ile605?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359310(A;A)
Alt rs80359310(A;A)
Reference rs80359310(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32907430dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043898.2, RCV000112980.1,