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rs80359751

From SNPedia

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


Make rs80359751(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380066
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359751
ebirs80359751
HLIrs80359751
Exacrs80359751
Varsomers80359751
Maprs80359751
PheGenIrs80359751
hapmaprs80359751
1000 genomesrs80359751
hgdprs80359751
ensemblrs80359751
gopubmedrs80359751
geneviewrs80359751
scholarrs80359751
googlers80359751
pharmgkbrs80359751
gwascentralrs80359751
openSNPrs80359751
23andMers80359751
23andMe allrs80359751
SNP Nexus

SNPshotrs80359751
SNPdbers80359751
MSV3drs80359751
GWAS Ctlgrs80359751
Max Magnitude6
rs80359751, also known as 9405delA, c.9177_9177delA and p.Lys3059Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359751(;)
Alt rs80359751(;)
Reference rs80359751(A;A)
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.32954203delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045738.2, RCV000114060.1,