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rs80357779

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357779(-;-)
Make rs80357779(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091478
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357779
ebirs80357779
HLIrs80357779
Exacrs80357779
Varsomers80357779
Maprs80357779
PheGenIrs80357779
hapmaprs80357779
1000 genomesrs80357779
hgdprs80357779
ensemblrs80357779
gopubmedrs80357779
geneviewrs80357779
scholarrs80357779
googlers80357779
pharmgkbrs80357779
gwascentralrs80357779
openSNPrs80357779
23andMers80357779
23andMe allrs80357779
SNP Nexus

SNPshotrs80357779
SNPdbers80357779
MSV3drs80357779
GWAS Ctlgrs80357779
Max Magnitude6
rs80357779, also known as 4171insT, c.4052_4053insT and p.Leu1351?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357779(T;T)
Alt rs80357779(T;T)
Reference rs80357779(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243496dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048425.2, RCV000112234.1,