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rs80357847

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357847(-;-)
Make rs80357847(AG;AG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43090961
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357847
ebirs80357847
HLIrs80357847
Exacrs80357847
Varsomers80357847
Maprs80357847
PheGenIrs80357847
hapmaprs80357847
1000 genomesrs80357847
hgdprs80357847
ensemblrs80357847
gopubmedrs80357847
geneviewrs80357847
scholarrs80357847
googlers80357847
pharmgkbrs80357847
gwascentralrs80357847
openSNPrs80357847
23andMers80357847
23andMe allrs80357847
SNP Nexus

SNPshotrs80357847
SNPdbers80357847
MSV3drs80357847
GWAS Ctlgrs80357847
Max Magnitude6
rs80357847, also known as 4286insAG, c.4167_4168insAG and p.Ser1389_Asp1390?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357847(AG;AG)
Alt rs80357847(AG;AG)
Reference rs80357847(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41242978_41242979insCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112274.1,