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rs80357558

From SNPedia

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


Make rs80357558(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43047693
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357558
ebirs80357558
HLIrs80357558
Exacrs80357558
Varsomers80357558
Maprs80357558
PheGenIrs80357558
hapmaprs80357558
1000 genomesrs80357558
hgdprs80357558
ensemblrs80357558
gopubmedrs80357558
geneviewrs80357558
scholarrs80357558
googlers80357558
pharmgkbrs80357558
gwascentralrs80357558
openSNPrs80357558
23andMers80357558
23andMe allrs80357558
SNP Nexus

SNPshotrs80357558
SNPdbers80357558
MSV3drs80357558
GWAS Ctlgrs80357558
Max Magnitude6
rs80357558, also known as 5536delC, c.5417_5417delC and p.Pro1806Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357558(;)
Alt rs80357558(;)
Reference rs80357558(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41199710delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031250.4, RCV000048985.2,