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rs80359704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359704(-;-)
Make rs80359704(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363455
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359704
ebirs80359704
HLIrs80359704
Exacrs80359704
Varsomers80359704
Maprs80359704
PheGenIrs80359704
hapmaprs80359704
1000 genomesrs80359704
hgdprs80359704
ensemblrs80359704
gopubmedrs80359704
geneviewrs80359704
scholarrs80359704
googlers80359704
pharmgkbrs80359704
gwascentralrs80359704
openSNPrs80359704
23andMers80359704
23andMe allrs80359704
SNP Nexus

SNPshotrs80359704
SNPdbers80359704
MSV3drs80359704
GWAS Ctlgrs80359704
Max Magnitude6
rs80359704, also known as 8481insT, c.8253_8254insT and p.Ile2751_Ile2752?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359704(T;T)
Alt rs80359704(T;T)
Reference rs80359704(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32937592dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031729.5,