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rs80357944

From SNPedia

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


Make rs80357944(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093332
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357944
ebirs80357944
HLIrs80357944
Exacrs80357944
Varsomers80357944
Maprs80357944
PheGenIrs80357944
hapmaprs80357944
1000 genomesrs80357944
hgdprs80357944
ensemblrs80357944
gopubmedrs80357944
geneviewrs80357944
scholarrs80357944
googlers80357944
pharmgkbrs80357944
gwascentralrs80357944
openSNPrs80357944
23andMers80357944
23andMe allrs80357944
SNP Nexus

SNPshotrs80357944
SNPdbers80357944
MSV3drs80357944
GWAS Ctlgrs80357944
Max Magnitude6
rs80357944, also known as 2318delG, c.2199_2199delG and p.Glu733=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357944(;)
Alt rs80357944(;)
Reference rs80357944(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41245349delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000077095.4, RCV000235485.1,