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rs80357659

From SNPedia

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


Make rs80357659(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092861
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357659
ebirs80357659
HLIrs80357659
Exacrs80357659
Varsomers80357659
Maprs80357659
PheGenIrs80357659
hapmaprs80357659
1000 genomesrs80357659
hgdprs80357659
ensemblrs80357659
gopubmedrs80357659
geneviewrs80357659
scholarrs80357659
googlers80357659
pharmgkbrs80357659
gwascentralrs80357659
openSNPrs80357659
23andMers80357659
23andMe allrs80357659
SNP Nexus

SNPshotrs80357659
SNPdbers80357659
MSV3drs80357659
GWAS Ctlgrs80357659
Max Magnitude6
rs80357659, also known as 2789delG, c.2670_2670delG and p.Gly890=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357659(;)
Alt rs80357659(;)
Reference rs80357659(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.41244878delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047919.2, RCV000111912.1,