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rs80357769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357769(-;-)
Make rs80357769(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092372
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357769
ebirs80357769
HLIrs80357769
Exacrs80357769
Varsomers80357769
Maprs80357769
PheGenIrs80357769
hapmaprs80357769
1000 genomesrs80357769
hgdprs80357769
ensemblrs80357769
gopubmedrs80357769
geneviewrs80357769
scholarrs80357769
googlers80357769
pharmgkbrs80357769
gwascentralrs80357769
openSNPrs80357769
23andMers80357769
23andMe allrs80357769
SNP Nexus

SNPshotrs80357769
SNPdbers80357769
MSV3drs80357769
GWAS Ctlgrs80357769
Max Magnitude6
rs80357769, also known as 3277insG, c.3158_3159insG and p.Glu1053?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357769(G;G)
Alt rs80357769(G;G)
Reference rs80357769(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244389_41244390insC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112011.1,