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rs80359723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359723(-;-)
Make rs80359723(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32376673
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359723
ebirs80359723
HLIrs80359723
Exacrs80359723
Varsomers80359723
Maprs80359723
PheGenIrs80359723
hapmaprs80359723
1000 genomesrs80359723
hgdprs80359723
ensemblrs80359723
gopubmedrs80359723
geneviewrs80359723
scholarrs80359723
googlers80359723
pharmgkbrs80359723
gwascentralrs80359723
openSNPrs80359723
23andMers80359723
23andMe allrs80359723
SNP Nexus

SNPshotrs80359723
SNPdbers80359723
MSV3drs80359723
GWAS Ctlgrs80359723
Max Magnitude6
rs80359723, also known as 8864insA, c.8636_8637insA and p.Asn2879?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359723(A;A)
Alt rs80359723(A;A)
Reference rs80359723(;)
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.32950810dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045586.2, RCV000113978.1,