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rs80359756

From SNPedia

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


Make rs80359756(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394742
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359756
ebirs80359756
HLIrs80359756
Exacrs80359756
Varsomers80359756
Maprs80359756
PheGenIrs80359756
hapmaprs80359756
1000 genomesrs80359756
hgdprs80359756
ensemblrs80359756
gopubmedrs80359756
geneviewrs80359756
scholarrs80359756
googlers80359756
pharmgkbrs80359756
gwascentralrs80359756
openSNPrs80359756
23andMers80359756
23andMe allrs80359756
SNP Nexus

SNPshotrs80359756
SNPdbers80359756
MSV3drs80359756
GWAS Ctlgrs80359756
Max Magnitude6
rs80359756, also known as 9538delAA, c.9310_9311delAA and p.Lys3104Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359756(;)
Alt rs80359756(;)
Reference rs80359756(AA;AA)
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.32968879_32968880delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045791.2, RCV000114089.1,