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rs80359697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359697(-;-)
Make rs80359697(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32363421
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359697
ebirs80359697
HLIrs80359697
Exacrs80359697
Varsomers80359697
Maprs80359697
PheGenIrs80359697
hapmaprs80359697
1000 genomesrs80359697
hgdprs80359697
ensemblrs80359697
gopubmedrs80359697
geneviewrs80359697
scholarrs80359697
googlers80359697
pharmgkbrs80359697
gwascentralrs80359697
openSNPrs80359697
23andMers80359697
23andMe allrs80359697
SNP Nexus

SNPshotrs80359697
SNPdbers80359697
MSV3drs80359697
GWAS Ctlgrs80359697
Max Magnitude6
rs80359697, also known as 8447insT, c.8219_8220insT and p.Leu2740?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359697(T;T)
Alt rs80359697(T;T)
Reference rs80359697(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32937558dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113890.1,