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rs80357756

From SNPedia

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


Make rs80357756(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092939
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357756
ebirs80357756
HLIrs80357756
Exacrs80357756
Varsomers80357756
Maprs80357756
PheGenIrs80357756
hapmaprs80357756
1000 genomesrs80357756
hgdprs80357756
ensemblrs80357756
gopubmedrs80357756
geneviewrs80357756
scholarrs80357756
googlers80357756
pharmgkbrs80357756
gwascentralrs80357756
openSNPrs80357756
23andMers80357756
23andMe allrs80357756
SNP Nexus

SNPshotrs80357756
SNPdbers80357756
MSV3drs80357756
GWAS Ctlgrs80357756
Max Magnitude6
rs80357756, also known as 2711delA, c.2592_2592delA and p.Ser864=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357756(;)
Alt rs80357756(;)
Reference rs80357756(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244954delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047891.3, RCV000077523.3,