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rs80358543

From SNPedia

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


Make rs80358543(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32337333
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358543
ebirs80358543
HLIrs80358543
Exacrs80358543
Varsomers80358543
Maprs80358543
PheGenIrs80358543
hapmaprs80358543
1000 genomesrs80358543
hgdprs80358543
ensemblrs80358543
gopubmedrs80358543
geneviewrs80358543
scholarrs80358543
googlers80358543
pharmgkbrs80358543
gwascentralrs80358543
openSNPrs80358543
23andMers80358543
23andMe allrs80358543
SNP Nexus

SNPshotrs80358543
SNPdbers80358543
MSV3drs80358543
GWAS Ctlgrs80358543
Max Magnitude6
rs80358543, also known as W993X, c.2978G>A and p.Trp993Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358543(A;A)
Alt rs80358543(A;A)
Reference rs80358543(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911470G>A
CLNSRC ClinVar
CLNACC RCV000113124.1,