Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80357733(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093463
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357733
ebirs80357733
HLIrs80357733
Exacrs80357733
Varsomers80357733
Maprs80357733
PheGenIrs80357733
hapmaprs80357733
1000 genomesrs80357733
hgdprs80357733
ensemblrs80357733
gopubmedrs80357733
geneviewrs80357733
scholarrs80357733
googlers80357733
pharmgkbrs80357733
gwascentralrs80357733
openSNPrs80357733
23andMers80357733
23andMe allrs80357733
SNP Nexus

SNPshotrs80357733
SNPdbers80357733
MSV3drs80357733
GWAS Ctlgrs80357733
Max Magnitude6
rs80357733, also known as 2187delA, c.2068_2068delA and p.Lys690=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357733(;)
Alt rs80357733(;)
Reference rs80357733(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41245477delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031025.7, RCV000047699.5, RCV000131404.2, RCV000167861.3,