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

rs80357905

From SNPedia

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


Make rs80357905(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43070973
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357905
ebirs80357905
HLIrs80357905
Exacrs80357905
Varsomers80357905
Maprs80357905
PheGenIrs80357905
hapmaprs80357905
1000 genomesrs80357905
hgdprs80357905
ensemblrs80357905
gopubmedrs80357905
geneviewrs80357905
scholarrs80357905
googlers80357905
pharmgkbrs80357905
gwascentralrs80357905
openSNPrs80357905
23andMers80357905
23andMe allrs80357905
SNP Nexus

SNPshotrs80357905
SNPdbers80357905
MSV3drs80357905
GWAS Ctlgrs80357905
Max Magnitude6
rs80357905, also known as 5060delC, c.4941_4941delC and p.Asn1647Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357905(;)
Alt rs80357905(;)
Reference rs80357905(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41222990delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048703.3, RCV000112430.1,