Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357739(-;-)
Make rs80357739(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093171
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357739
ebirs80357739
HLIrs80357739
Exacrs80357739
Varsomers80357739
Maprs80357739
PheGenIrs80357739
hapmaprs80357739
1000 genomesrs80357739
hgdprs80357739
ensemblrs80357739
gopubmedrs80357739
geneviewrs80357739
scholarrs80357739
googlers80357739
pharmgkbrs80357739
gwascentralrs80357739
openSNPrs80357739
23andMers80357739
23andMe allrs80357739
SNP Nexus

SNPshotrs80357739
SNPdbers80357739
MSV3drs80357739
GWAS Ctlgrs80357739
Max Magnitude6
rs80357739, also known as 2478insG, c.2359_2360insG and p.Glu787?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357739(G;G)
Alt rs80357739(G;G)
Reference rs80357739(;)
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.41245189dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047815.2, RCV000111834.1, RCV000166731.1,