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rs80357873

From SNPedia

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


Make rs80357873(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091832
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357873
ebirs80357873
HLIrs80357873
Exacrs80357873
Varsomers80357873
Maprs80357873
PheGenIrs80357873
hapmaprs80357873
1000 genomesrs80357873
hgdprs80357873
ensemblrs80357873
gopubmedrs80357873
geneviewrs80357873
scholarrs80357873
googlers80357873
pharmgkbrs80357873
gwascentralrs80357873
openSNPrs80357873
23andMers80357873
23andMe allrs80357873
SNP Nexus

SNPshotrs80357873
SNPdbers80357873
MSV3drs80357873
GWAS Ctlgrs80357873
Max Magnitude6
rs80357873, also known as 3818delA, c.3699_3699delA and p.Lys1233=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357873(;)
Alt rs80357873(;)
Reference rs80357873(A;A)
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.41243849delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048286.2, RCV000112156.1,