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rs80359548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359548(-;-)
Make rs80359548(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340285
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359548
ebirs80359548
HLIrs80359548
Exacrs80359548
Varsomers80359548
Maprs80359548
PheGenIrs80359548
hapmaprs80359548
1000 genomesrs80359548
hgdprs80359548
ensemblrs80359548
gopubmedrs80359548
geneviewrs80359548
scholarrs80359548
googlers80359548
pharmgkbrs80359548
gwascentralrs80359548
openSNPrs80359548
23andMers80359548
23andMe allrs80359548
SNP Nexus

SNPshotrs80359548
SNPdbers80359548
MSV3drs80359548
GWAS Ctlgrs80359548
Max Magnitude6
rs80359548, also known as 6158insT, c.5930_5931insT and p.Ile1977?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359548(T;T)
Alt rs80359548(T;T)
Reference rs80359548(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914426dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113505.1, RCV000164167.1,