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rs80359313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359313(-;-)
Make rs80359313(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32333332
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359313
ebirs80359313
HLIrs80359313
Exacrs80359313
Varsomers80359313
Maprs80359313
PheGenIrs80359313
hapmaprs80359313
1000 genomesrs80359313
hgdprs80359313
ensemblrs80359313
gopubmedrs80359313
geneviewrs80359313
scholarrs80359313
googlers80359313
pharmgkbrs80359313
gwascentralrs80359313
openSNPrs80359313
23andMers80359313
23andMe allrs80359313
SNP Nexus

SNPshotrs80359313
SNPdbers80359313
MSV3drs80359313
GWAS Ctlgrs80359313
Max Magnitude6
rs80359313, also known as 2082insA, c.1854_1855insA and p.Ala618_Gln619?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359313(A;A)
Alt rs80359313(A;A)
Reference rs80359313(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32907469_32907470insA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000112987.1,