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rs80359467

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359467(-;-)
Make rs80359467(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339164
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359467
ebirs80359467
HLIrs80359467
Exacrs80359467
Varsomers80359467
Maprs80359467
PheGenIrs80359467
hapmaprs80359467
1000 genomesrs80359467
hgdprs80359467
ensemblrs80359467
gopubmedrs80359467
geneviewrs80359467
scholarrs80359467
googlers80359467
pharmgkbrs80359467
gwascentralrs80359467
openSNPrs80359467
23andMers80359467
23andMe allrs80359467
SNP Nexus

SNPshotrs80359467
SNPdbers80359467
MSV3drs80359467
GWAS Ctlgrs80359467
Max Magnitude6
rs80359467, also known as 5037insA, c.4809_4810insA and p.Asn1603_Leu1604?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359467(A;A)
Alt rs80359467(A;A)
Reference rs80359467(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913301_32913302insA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113346.1,