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rs80359613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359613(-;-)
Make rs80359613(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340996
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359613
ebirs80359613
HLIrs80359613
Exacrs80359613
Varsomers80359613
Maprs80359613
PheGenIrs80359613
hapmaprs80359613
1000 genomesrs80359613
hgdprs80359613
ensemblrs80359613
gopubmedrs80359613
geneviewrs80359613
scholarrs80359613
googlers80359613
pharmgkbrs80359613
gwascentralrs80359613
openSNPrs80359613
23andMers80359613
23andMe allrs80359613
SNP Nexus

SNPshotrs80359613
SNPdbers80359613
MSV3drs80359613
GWAS Ctlgrs80359613
Max Magnitude6
rs80359613, also known as 6869insC, c.6641_6642insC and p.Thr2214?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359613(C;C)
Alt rs80359613(C;C)
Reference rs80359613(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32915133dupC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031641.6, RCV000045004.2, RCV000130476.2,