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rs80357885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357885(-;-)
Make rs80357885(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093578
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357885
ebirs80357885
HLIrs80357885
Exacrs80357885
Varsomers80357885
Maprs80357885
PheGenIrs80357885
hapmaprs80357885
1000 genomesrs80357885
hgdprs80357885
ensemblrs80357885
gopubmedrs80357885
geneviewrs80357885
scholarrs80357885
googlers80357885
pharmgkbrs80357885
gwascentralrs80357885
openSNPrs80357885
23andMers80357885
23andMe allrs80357885
SNP Nexus

SNPshotrs80357885
SNPdbers80357885
MSV3drs80357885
GWAS Ctlgrs80357885
Max Magnitude6
rs80357885, also known as 2071insA, c.1952_1953insA and p.Lys651?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357885(A;A)
Alt rs80357885(A;A)
Reference rs80357885(;)
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.41245596dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047652.2, RCV000111738.1,