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rs80359563

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80359563(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340533
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359563
ebirs80359563
HLIrs80359563
Exacrs80359563
Varsomers80359563
Maprs80359563
PheGenIrs80359563
hapmaprs80359563
1000 genomesrs80359563
hgdprs80359563
ensemblrs80359563
gopubmedrs80359563
geneviewrs80359563
scholarrs80359563
googlers80359563
pharmgkbrs80359563
gwascentralrs80359563
openSNPrs80359563
23andMers80359563
23andMe allrs80359563
SNP Nexus

SNPshotrs80359563
SNPdbers80359563
MSV3drs80359563
GWAS Ctlgrs80359563
Max Magnitude6
rs80359563, also known as 6406delA, c.6178_6178delA and p.Thr2060Glnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359563(;)
Alt rs80359563(;)
Reference rs80359563(A;A)
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.32914670delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044861.2, RCV000113541.1,