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rs80358809

From SNPedia

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


Make rs80358809(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326563
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358809
ebirs80358809
HLIrs80358809
Exacrs80358809
Varsomers80358809
Maprs80358809
PheGenIrs80358809
hapmaprs80358809
1000 genomesrs80358809
hgdprs80358809
ensemblrs80358809
gopubmedrs80358809
geneviewrs80358809
scholarrs80358809
googlers80358809
pharmgkbrs80358809
gwascentralrs80358809
openSNPrs80358809
23andMers80358809
23andMe allrs80358809
SNP Nexus

SNPshotrs80358809
SNPdbers80358809
MSV3drs80358809
GWAS Ctlgrs80358809
Max Magnitude6
rs80358809, also known as W194X, c.581G>A and p.Trp194Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358809(A;A)
Alt rs80358809(A;A)
Reference rs80358809(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32900700G>A
CLNSRC ClinVar
CLNACC RCV000044763.3, RCV000077362.3,