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rs80357589

From SNPedia

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


Make rs80357589(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091901
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357589
ebirs80357589
HLIrs80357589
Exacrs80357589
Varsomers80357589
Maprs80357589
PheGenIrs80357589
hapmaprs80357589
1000 genomesrs80357589
hgdprs80357589
ensemblrs80357589
gopubmedrs80357589
geneviewrs80357589
scholarrs80357589
googlers80357589
pharmgkbrs80357589
gwascentralrs80357589
openSNPrs80357589
23andMers80357589
23andMe allrs80357589
SNP Nexus

SNPshotrs80357589
SNPdbers80357589
MSV3drs80357589
GWAS Ctlgrs80357589
Max Magnitude6
rs80357589, also known as 3748delAG, c.3629_3630delAG and p.Glu1210Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357589(;)
Alt rs80357589(;)
Reference rs80357589(AG;AG)
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.41243918_41243919delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048265.2, RCV000112141.1,