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rs80359639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359639(-;-)
Make rs80359639(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355009
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359639
ebirs80359639
HLIrs80359639
Exacrs80359639
Varsomers80359639
Maprs80359639
PheGenIrs80359639
hapmaprs80359639
1000 genomesrs80359639
hgdprs80359639
ensemblrs80359639
gopubmedrs80359639
geneviewrs80359639
scholarrs80359639
googlers80359639
pharmgkbrs80359639
gwascentralrs80359639
openSNPrs80359639
23andMers80359639
23andMe allrs80359639
SNP Nexus

SNPshotrs80359639
SNPdbers80359639
MSV3drs80359639
GWAS Ctlgrs80359639
Max Magnitude6
rs80359639, also known as 7384insT, c.7156_7157insT and p.Ser2386?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359639(T;T)
Alt rs80359639(T;T)
Reference rs80359639(;)
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.32929146dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045152.2, RCV000113715.1,