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rs80357870

From SNPedia

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


Make rs80357870(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43063881
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357870
ebirs80357870
HLIrs80357870
Exacrs80357870
Varsomers80357870
Maprs80357870
PheGenIrs80357870
hapmaprs80357870
1000 genomesrs80357870
hgdprs80357870
ensemblrs80357870
gopubmedrs80357870
geneviewrs80357870
scholarrs80357870
googlers80357870
pharmgkbrs80357870
gwascentralrs80357870
openSNPrs80357870
23andMers80357870
23andMe allrs80357870
SNP Nexus

SNPshotrs80357870
SNPdbers80357870
MSV3drs80357870
GWAS Ctlgrs80357870
Max Magnitude6
rs80357870, also known as 5264delC, c.5145_5145delC and p.Ser1715=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357870(;)
Alt rs80357870(;)
Reference rs80357870(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41215898delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112510.1,