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rs80359708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar


Make rs80359708(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370413
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359708
ebirs80359708
HLIrs80359708
Exacrs80359708
Varsomers80359708
Maprs80359708
PheGenIrs80359708
hapmaprs80359708
1000 genomesrs80359708
hgdprs80359708
ensemblrs80359708
gopubmedrs80359708
geneviewrs80359708
scholarrs80359708
googlers80359708
pharmgkbrs80359708
gwascentralrs80359708
openSNPrs80359708
23andMers80359708
23andMe allrs80359708
SNP Nexus

SNPshotrs80359708
SNPdbers80359708
MSV3drs80359708
GWAS Ctlgrs80359708
Max Magnitude6
rs80359708, also known as 8571delC, c.8343_8343delC and p.Asn2781Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359708(;)
Alt rs80359708(;)
Reference rs80359708(C;C)
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.32944550delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045485.2, RCV000113910.1,