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rs80359453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359453(-;-)
Make rs80359453(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32338832
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359453
ebirs80359453
HLIrs80359453
Exacrs80359453
Varsomers80359453
Maprs80359453
PheGenIrs80359453
hapmaprs80359453
1000 genomesrs80359453
hgdprs80359453
ensemblrs80359453
gopubmedrs80359453
geneviewrs80359453
scholarrs80359453
googlers80359453
pharmgkbrs80359453
gwascentralrs80359453
openSNPrs80359453
23andMers80359453
23andMe allrs80359453
SNP Nexus

SNPshotrs80359453
SNPdbers80359453
MSV3drs80359453
GWAS Ctlgrs80359453
Max Magnitude6
rs80359453, also known as 4705insA, c.4477_4478insA and p.Glu1493?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359453(A;A)
Alt rs80359453(A;A)
Reference rs80359453(;)
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.32912972dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044422.2, RCV000113306.1,