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rs80359515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359515(-;-)
Make rs80359515(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339826
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359515
ebirs80359515
HLIrs80359515
Exacrs80359515
Varsomers80359515
Maprs80359515
PheGenIrs80359515
hapmaprs80359515
1000 genomesrs80359515
hgdprs80359515
ensemblrs80359515
gopubmedrs80359515
geneviewrs80359515
scholarrs80359515
googlers80359515
pharmgkbrs80359515
gwascentralrs80359515
openSNPrs80359515
23andMers80359515
23andMe allrs80359515
SNP Nexus

SNPshotrs80359515
SNPdbers80359515
MSV3drs80359515
GWAS Ctlgrs80359515
Max Magnitude6
rs80359515, also known as 5699insA, c.5471_5472insA and p.Asn1824?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359515(A;A)
Alt rs80359515(A;A)
Reference rs80359515(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913963dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031548.4, RCV000044668.3, RCV000166935.1,