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rs80357566

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357566(-;-)
Make rs80357566(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093342
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357566
ebirs80357566
HLIrs80357566
Exacrs80357566
Varsomers80357566
Maprs80357566
PheGenIrs80357566
hapmaprs80357566
1000 genomesrs80357566
hgdprs80357566
ensemblrs80357566
gopubmedrs80357566
geneviewrs80357566
scholarrs80357566
googlers80357566
pharmgkbrs80357566
gwascentralrs80357566
openSNPrs80357566
23andMers80357566
23andMe allrs80357566
SNP Nexus

SNPshotrs80357566
SNPdbers80357566
MSV3drs80357566
GWAS Ctlgrs80357566
Max Magnitude6
rs80357566, also known as 2307insG, c.2188_2189insG and p.Glu730?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357566(G;G)
Alt rs80357566(G;G)
Reference rs80357566(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245360dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111783.1,