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rs80357682

From SNPedia

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


Make rs80357682(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43106524
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357682
ebirs80357682
HLIrs80357682
Exacrs80357682
Varsomers80357682
Maprs80357682
PheGenIrs80357682
hapmaprs80357682
1000 genomesrs80357682
hgdprs80357682
ensemblrs80357682
gopubmedrs80357682
geneviewrs80357682
scholarrs80357682
googlers80357682
pharmgkbrs80357682
gwascentralrs80357682
openSNPrs80357682
23andMers80357682
23andMe allrs80357682
SNP Nexus

SNPshotrs80357682
SNPdbers80357682
MSV3drs80357682
GWAS Ctlgrs80357682
Max Magnitude6
rs80357682, also known as 263delG, c.144_144delG and p.Met48Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357682(;)
Alt rs80357682(;)
Reference rs80357682(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.41258541delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047480.2, RCV000111883.1,