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rs80359566

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359566(-;-)
Make rs80359566(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340558
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359566
ebirs80359566
HLIrs80359566
Exacrs80359566
Varsomers80359566
Maprs80359566
PheGenIrs80359566
hapmaprs80359566
1000 genomesrs80359566
hgdprs80359566
ensemblrs80359566
gopubmedrs80359566
geneviewrs80359566
scholarrs80359566
googlers80359566
pharmgkbrs80359566
gwascentralrs80359566
openSNPrs80359566
23andMers80359566
23andMe allrs80359566
SNP Nexus

SNPshotrs80359566
SNPdbers80359566
MSV3drs80359566
GWAS Ctlgrs80359566
Max Magnitude6
rs80359566, also known as 6431insA, c.6203_6204insA and p.Ile2068?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359566(A;A)
Alt rs80359566(A;A)
Reference rs80359566(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914695_32914696insA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113544.1,