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rs80359744

From SNPedia

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


Make rs80359744(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379853
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359744
ebirs80359744
HLIrs80359744
Exacrs80359744
Varsomers80359744
Maprs80359744
PheGenIrs80359744
hapmaprs80359744
1000 genomesrs80359744
hgdprs80359744
ensemblrs80359744
gopubmedrs80359744
geneviewrs80359744
scholarrs80359744
googlers80359744
pharmgkbrs80359744
gwascentralrs80359744
openSNPrs80359744
23andMers80359744
23andMe allrs80359744
SNP Nexus

SNPshotrs80359744
SNPdbers80359744
MSV3drs80359744
GWAS Ctlgrs80359744
Max Magnitude6
rs80359744, also known as 9285delA, c.9057_9057delA and p.Lys3019Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359744(;)
Alt rs80359744(;)
Reference rs80359744(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.32953990delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045698.2, RCV000114037.1,