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rs80357946

From SNPedia

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


Make rs80357946(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43047670
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357946
ebirs80357946
HLIrs80357946
Exacrs80357946
Varsomers80357946
Maprs80357946
PheGenIrs80357946
hapmaprs80357946
1000 genomesrs80357946
hgdprs80357946
ensemblrs80357946
gopubmedrs80357946
geneviewrs80357946
scholarrs80357946
googlers80357946
pharmgkbrs80357946
gwascentralrs80357946
openSNPrs80357946
23andMers80357946
23andMe allrs80357946
SNP Nexus

SNPshotrs80357946
SNPdbers80357946
MSV3drs80357946
GWAS Ctlgrs80357946
Max Magnitude6
rs80357946, also known as 5559delG, c.5440_5440delG and p.Ala1814Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357946(;)
Alt rs80357946(;)
Reference rs80357946(G;G)
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.41199687delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048995.2, RCV000112655.1,