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rs80357579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GA) 6 BRCA1 variant considered pathogenic for breast cancer
(AG;AG) 0 common in clinvar
Make rs80357579(-;-)
Make rs80357579(GA;GA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091761
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357579
ebirs80357579
HLIrs80357579
Exacrs80357579
Varsomers80357579
Maprs80357579
PheGenIrs80357579
hapmaprs80357579
1000 genomesrs80357579
hgdprs80357579
ensemblrs80357579
gopubmedrs80357579
geneviewrs80357579
scholarrs80357579
googlers80357579
pharmgkbrs80357579
gwascentralrs80357579
openSNPrs80357579
23andMers80357579
23andMe allrs80357579
SNP Nexus

SNPshotrs80357579
SNPdbers80357579
MSV3drs80357579
GWAS Ctlgrs80357579
Max Magnitude6
rs80357579, also known as 3888delGA, c.3769_3770delGA and p.Glu1257Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357579(;)
Alt rs80357579(;)
Reference rs80357579(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41243777_41243778delCT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000031127.8, RCV000048325.5, RCV000131814.2, RCV000235232.1,