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rs80357660

From SNPedia

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


Make rs80357660(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43106497
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357660
ebirs80357660
HLIrs80357660
Exacrs80357660
Varsomers80357660
Maprs80357660
PheGenIrs80357660
hapmaprs80357660
1000 genomesrs80357660
hgdprs80357660
ensemblrs80357660
gopubmedrs80357660
geneviewrs80357660
scholarrs80357660
googlers80357660
pharmgkbrs80357660
gwascentralrs80357660
openSNPrs80357660
23andMers80357660
23andMe allrs80357660
SNP Nexus

SNPshotrs80357660
SNPdbers80357660
MSV3drs80357660
GWAS Ctlgrs80357660
Max Magnitude6
rs80357660, also known as 290delG, c.171_171delG and p.Gly57=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357660(;)
Alt rs80357660(;)
Reference rs80357660(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41258514delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111939.1,