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rs80357833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;AA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357833(-;-)
Make rs80357833(AA;AA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43070980
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357833
ebirs80357833
HLIrs80357833
Exacrs80357833
Varsomers80357833
Maprs80357833
PheGenIrs80357833
hapmaprs80357833
1000 genomesrs80357833
hgdprs80357833
ensemblrs80357833
gopubmedrs80357833
geneviewrs80357833
scholarrs80357833
googlers80357833
pharmgkbrs80357833
gwascentralrs80357833
openSNPrs80357833
23andMers80357833
23andMe allrs80357833
SNP Nexus

SNPshotrs80357833
SNPdbers80357833
MSV3drs80357833
GWAS Ctlgrs80357833
Max Magnitude6
rs80357833, also known as 5052insAA, c.4933_4934insAA and p.Arg1645?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357833(AA;AA)
Alt rs80357833(AA;AA)
Reference rs80357833(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41222997_41222998insTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112424.1,