Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357599(-;-)
Make rs80357599(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094068
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357599
ebirs80357599
HLIrs80357599
Exacrs80357599
Varsomers80357599
Maprs80357599
PheGenIrs80357599
hapmaprs80357599
1000 genomesrs80357599
hgdprs80357599
ensemblrs80357599
gopubmedrs80357599
geneviewrs80357599
scholarrs80357599
googlers80357599
pharmgkbrs80357599
gwascentralrs80357599
openSNPrs80357599
23andMers80357599
23andMe allrs80357599
SNP Nexus

SNPshotrs80357599
SNPdbers80357599
MSV3drs80357599
GWAS Ctlgrs80357599
Max Magnitude6
rs80357599, also known as 1581insA, c.1462_1463insA and p.Thr488?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357599(A;A)
Alt rs80357599(A;A)
Reference rs80357599(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246086dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111624.1,