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rs80359511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;AT) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359511(-;-)
Make rs80359511(AT;AT)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326521
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359511
ebirs80359511
HLIrs80359511
Exacrs80359511
Varsomers80359511
Maprs80359511
PheGenIrs80359511
hapmaprs80359511
1000 genomesrs80359511
hgdprs80359511
ensemblrs80359511
gopubmedrs80359511
geneviewrs80359511
scholarrs80359511
googlers80359511
pharmgkbrs80359511
gwascentralrs80359511
openSNPrs80359511
23andMers80359511
23andMe allrs80359511
SNP Nexus

SNPshotrs80359511
SNPdbers80359511
MSV3drs80359511
GWAS Ctlgrs80359511
Max Magnitude6
rs80359511, also known as 767insAT, c.539_540insAT and p.Ile180?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359511(AT;AT)
Alt rs80359511(AT;AT)
Reference rs80359511(;)
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.32900657_32900658dupAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044648.2, RCV000143833.2,