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rs80357559

From SNPedia

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


Make rs80357559(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092644
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357559
ebirs80357559
HLIrs80357559
Exacrs80357559
Varsomers80357559
Maprs80357559
PheGenIrs80357559
hapmaprs80357559
1000 genomesrs80357559
hgdprs80357559
ensemblrs80357559
gopubmedrs80357559
geneviewrs80357559
scholarrs80357559
googlers80357559
pharmgkbrs80357559
gwascentralrs80357559
openSNPrs80357559
23andMers80357559
23andMe allrs80357559
SNP Nexus

SNPshotrs80357559
SNPdbers80357559
MSV3drs80357559
GWAS Ctlgrs80357559
Max Magnitude6
rs80357559, also known as 3006delA, c.2887_2887delA and p.Thr963Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357559(;)
Alt rs80357559(;)
Reference rs80357559(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244661delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048001.2, RCV000111957.2, RCV000129427.2,