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rs80357615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357615(-;-)
Make rs80357615(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43071070
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357615
ebirs80357615
HLIrs80357615
Exacrs80357615
Varsomers80357615
Maprs80357615
PheGenIrs80357615
hapmaprs80357615
1000 genomesrs80357615
hgdprs80357615
ensemblrs80357615
gopubmedrs80357615
geneviewrs80357615
scholarrs80357615
googlers80357615
pharmgkbrs80357615
gwascentralrs80357615
openSNPrs80357615
23andMers80357615
23andMe allrs80357615
SNP Nexus

SNPshotrs80357615
SNPdbers80357615
MSV3drs80357615
GWAS Ctlgrs80357615
Max Magnitude6
rs80357615, also known as 4962insG, c.4843_4844insG and p.Ala1615?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357615(G;G)
Alt rs80357615(G;G)
Reference rs80357615(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41223088dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112412.1,