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rs80357694

From SNPedia

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


Make rs80357694(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049186
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357694
ebirs80357694
HLIrs80357694
Exacrs80357694
Varsomers80357694
Maprs80357694
PheGenIrs80357694
hapmaprs80357694
1000 genomesrs80357694
hgdprs80357694
ensemblrs80357694
gopubmedrs80357694
geneviewrs80357694
scholarrs80357694
googlers80357694
pharmgkbrs80357694
gwascentralrs80357694
openSNPrs80357694
23andMers80357694
23andMe allrs80357694
SNP Nexus

SNPshotrs80357694
SNPdbers80357694
MSV3drs80357694
GWAS Ctlgrs80357694
Max Magnitude6
rs80357694, also known as 5460delG, c.5341_5341delG and p.Glu1781Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357694(;)
Alt rs80357694(;)
Reference rs80357694(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.41201203delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048950.2, RCV000112625.1,