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rs80357939

From SNPedia

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


Make rs80357939(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094175
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357939
ebirs80357939
HLIrs80357939
Exacrs80357939
Varsomers80357939
Maprs80357939
PheGenIrs80357939
hapmaprs80357939
1000 genomesrs80357939
hgdprs80357939
ensemblrs80357939
gopubmedrs80357939
geneviewrs80357939
scholarrs80357939
googlers80357939
pharmgkbrs80357939
gwascentralrs80357939
openSNPrs80357939
23andMers80357939
23andMe allrs80357939
SNP Nexus

SNPshotrs80357939
SNPdbers80357939
MSV3drs80357939
GWAS Ctlgrs80357939
Max Magnitude6
rs80357939, also known as 1475delA, c.1356_1356delA and p.Val452=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357939(;)
Alt rs80357939(;)
Reference rs80357939(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246192delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111595.1,