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rs80359508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359508(-;-)
Make rs80359508(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339706
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359508
ebirs80359508
HLIrs80359508
Exacrs80359508
Varsomers80359508
Maprs80359508
PheGenIrs80359508
hapmaprs80359508
1000 genomesrs80359508
hgdprs80359508
ensemblrs80359508
gopubmedrs80359508
geneviewrs80359508
scholarrs80359508
googlers80359508
pharmgkbrs80359508
gwascentralrs80359508
openSNPrs80359508
23andMers80359508
23andMe allrs80359508
SNP Nexus

SNPshotrs80359508
SNPdbers80359508
MSV3drs80359508
GWAS Ctlgrs80359508
Max Magnitude6
rs80359508, also known as 5579insA, c.5351_5352insA and p.Asn1784?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359508(A;A)
Alt rs80359508(A;A)
Reference rs80359508(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32913843dupA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031541.6, RCV000044642.4, RCV000131977.3, RCV000195402.2,