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rs80357792

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357792(-;-)
Make rs80357792(AG;AG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094688
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357792
ebirs80357792
HLIrs80357792
Exacrs80357792
Varsomers80357792
Maprs80357792
PheGenIrs80357792
hapmaprs80357792
1000 genomesrs80357792
hgdprs80357792
ensemblrs80357792
gopubmedrs80357792
geneviewrs80357792
scholarrs80357792
googlers80357792
pharmgkbrs80357792
gwascentralrs80357792
openSNPrs80357792
23andMers80357792
23andMe allrs80357792
SNP Nexus

SNPshotrs80357792
SNPdbers80357792
MSV3drs80357792
GWAS Ctlgrs80357792
Max Magnitude6
rs80357792, also known as 961insAG, c.842_843insAG and p.Ser281?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357792(AG;AG)
Alt rs80357792(AG;AG)
Reference rs80357792(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246705_41246706insCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112801.1,