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

rs80357679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs80357679(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093081
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357679
ebirs80357679
HLIrs80357679
Exacrs80357679
Varsomers80357679
Maprs80357679
PheGenIrs80357679
hapmaprs80357679
1000 genomesrs80357679
hgdprs80357679
ensemblrs80357679
gopubmedrs80357679
geneviewrs80357679
scholarrs80357679
googlers80357679
pharmgkbrs80357679
gwascentralrs80357679
openSNPrs80357679
23andMers80357679
23andMe allrs80357679
SNP Nexus

SNPshotrs80357679
SNPdbers80357679
MSV3drs80357679
GWAS Ctlgrs80357679
Max Magnitude6
rs80357679, also known as 2569delG, c.2450_2450delG and p.Gly817Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357679(;)
Alt rs80357679(;)
Reference rs80357679(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245098delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047844.2, RCV000111864.1,