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rs80357913

From SNPedia

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


Make rs80357913(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093155
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357913
ebirs80357913
HLIrs80357913
Exacrs80357913
Varsomers80357913
Maprs80357913
PheGenIrs80357913
hapmaprs80357913
1000 genomesrs80357913
hgdprs80357913
ensemblrs80357913
gopubmedrs80357913
geneviewrs80357913
scholarrs80357913
googlers80357913
pharmgkbrs80357913
gwascentralrs80357913
openSNPrs80357913
23andMers80357913
23andMe allrs80357913
SNP Nexus

SNPshotrs80357913
SNPdbers80357913
MSV3drs80357913
GWAS Ctlgrs80357913
Max Magnitude6
rs80357913, also known as 2495delG, c.2376_2376delG and p.Gly792=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357913(;)
Alt rs80357913(;)
Reference rs80357913(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.41245172delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111837.1,