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rs80357581

From SNPedia

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


Make rs80357581(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43051087
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357581
ebirs80357581
HLIrs80357581
Exacrs80357581
Varsomers80357581
Maprs80357581
PheGenIrs80357581
hapmaprs80357581
1000 genomesrs80357581
hgdprs80357581
ensemblrs80357581
gopubmedrs80357581
geneviewrs80357581
scholarrs80357581
googlers80357581
pharmgkbrs80357581
gwascentralrs80357581
openSNPrs80357581
23andMers80357581
23andMe allrs80357581
SNP Nexus

SNPshotrs80357581
SNPdbers80357581
MSV3drs80357581
GWAS Ctlgrs80357581
Max Magnitude6
rs80357581, also known as 5427delG, c.5308_5308delG and p.Gly1770=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357581(;)
Alt rs80357581(;)
Reference rs80357581(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.41203102delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048920.2, RCV000112606.2,