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rs80357794

From SNPedia

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


Make rs80357794(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094234
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357794
ebirs80357794
HLIrs80357794
Exacrs80357794
Varsomers80357794
Maprs80357794
PheGenIrs80357794
hapmaprs80357794
1000 genomesrs80357794
hgdprs80357794
ensemblrs80357794
gopubmedrs80357794
geneviewrs80357794
scholarrs80357794
googlers80357794
pharmgkbrs80357794
gwascentralrs80357794
openSNPrs80357794
23andMers80357794
23andMe allrs80357794
SNP Nexus

SNPshotrs80357794
SNPdbers80357794
MSV3drs80357794
GWAS Ctlgrs80357794
Max Magnitude6
rs80357794, also known as 1416delG, c.1297_1297delG and p.Ala433Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357794(;)
Alt rs80357794(;)
Reference rs80357794(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.41246251delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047408.2, RCV000111585.1,