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rs80357681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357681(-;-)
Make rs80357681(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093257
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357681
ebirs80357681
HLIrs80357681
Exacrs80357681
Varsomers80357681
Maprs80357681
PheGenIrs80357681
hapmaprs80357681
1000 genomesrs80357681
hgdprs80357681
ensemblrs80357681
gopubmedrs80357681
geneviewrs80357681
scholarrs80357681
googlers80357681
pharmgkbrs80357681
gwascentralrs80357681
openSNPrs80357681
23andMers80357681
23andMe allrs80357681
SNP Nexus

SNPshotrs80357681
SNPdbers80357681
MSV3drs80357681
GWAS Ctlgrs80357681
Max Magnitude6
rs80357681, also known as 2392insT, c.2273_2274insT and p.Leu758?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357681(T;T)
Alt rs80357681(T;T)
Reference rs80357681(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245275dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111813.1, RCV000165448.1,