Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358498(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319236
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358498
ebirs80358498
HLIrs80358498
Exacrs80358498
Varsomers80358498
Maprs80358498
PheGenIrs80358498
hapmaprs80358498
1000 genomesrs80358498
hgdprs80358498
ensemblrs80358498
gopubmedrs80358498
geneviewrs80358498
scholarrs80358498
googlers80358498
pharmgkbrs80358498
gwascentralrs80358498
openSNPrs80358498
23andMers80358498
23andMe allrs80358498
SNP Nexus

SNPshotrs80358498
SNPdbers80358498
MSV3drs80358498
GWAS Ctlgrs80358498
Max Magnitude6
rs80358498, also known as S76X, c.227C>G and p.Ser76Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358498(G;G)
Alt rs80358498(G;G)
Reference rs80358498(C;C)
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.32893373C>G
CLNSRC ClinVar
CLNACC RCV000043967.2, RCV000113296.1,