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rs80359579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359579(-;-)
Make rs80359579(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340729
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359579
ebirs80359579
HLIrs80359579
Exacrs80359579
Varsomers80359579
Maprs80359579
PheGenIrs80359579
hapmaprs80359579
1000 genomesrs80359579
hgdprs80359579
ensemblrs80359579
gopubmedrs80359579
geneviewrs80359579
scholarrs80359579
googlers80359579
pharmgkbrs80359579
gwascentralrs80359579
openSNPrs80359579
23andMers80359579
23andMe allrs80359579
SNP Nexus

SNPshotrs80359579
SNPdbers80359579
MSV3drs80359579
GWAS Ctlgrs80359579
Max Magnitude6
rs80359579, also known as 6602insA, c.6374_6375insA and p.Thr2125?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359579(A;A)
Alt rs80359579(A;A)
Reference rs80359579(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914866_32914867insA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113579.1,