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rs80357883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357883(-;-)
Make rs80357883(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092336
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357883
ebirs80357883
HLIrs80357883
Exacrs80357883
Varsomers80357883
Maprs80357883
PheGenIrs80357883
hapmaprs80357883
1000 genomesrs80357883
hgdprs80357883
ensemblrs80357883
gopubmedrs80357883
geneviewrs80357883
scholarrs80357883
googlers80357883
pharmgkbrs80357883
gwascentralrs80357883
openSNPrs80357883
23andMers80357883
23andMe allrs80357883
SNP Nexus

SNPshotrs80357883
SNPdbers80357883
MSV3drs80357883
GWAS Ctlgrs80357883
Max Magnitude6
rs80357883, also known as 3313insG, c.3194_3195insG and p.Asp1065?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357883(G;G)
Alt rs80357883(G;G)
Reference rs80357883(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244353_41244354insC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112022.1,