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rs80359767

From SNPedia

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


Make rs80359767(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32396903
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359767
ebirs80359767
HLIrs80359767
Exacrs80359767
Varsomers80359767
Maprs80359767
PheGenIrs80359767
hapmaprs80359767
1000 genomesrs80359767
hgdprs80359767
ensemblrs80359767
gopubmedrs80359767
geneviewrs80359767
scholarrs80359767
googlers80359767
pharmgkbrs80359767
gwascentralrs80359767
openSNPrs80359767
23andMers80359767
23andMe allrs80359767
SNP Nexus

SNPshotrs80359767
SNPdbers80359767
MSV3drs80359767
GWAS Ctlgrs80359767
Max Magnitude6
rs80359767, also known as 9735delT, c.9507_9507delT and p.Ile3169Metfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359767(;)
Alt rs80359767(;)
Reference rs80359767(T;T)
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.32971040delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045846.2, RCV000114126.1,