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rs80357787

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AG) 6 BRCA1 variant considered pathogenic for breast cancer
(AG;AG) 0 Normal


Make rs80357787(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091008
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357787
ebirs80357787
HLIrs80357787
Exacrs80357787
Varsomers80357787
Maprs80357787
PheGenIrs80357787
hapmaprs80357787
1000 genomesrs80357787
hgdprs80357787
ensemblrs80357787
gopubmedrs80357787
geneviewrs80357787
scholarrs80357787
googlers80357787
pharmgkbrs80357787
gwascentralrs80357787
openSNPrs80357787
23andMers80357787
23andMe allrs80357787
SNP Nexus

SNPshotrs80357787
SNPdbers80357787
MSV3drs80357787
GWAS Ctlgrs80357787
Max Magnitude6
rs80357787, also known as 4239delAG, c.4120_4121delAG and p.Ser1374Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357787(;)
Alt rs80357787(;)
Reference rs80357787(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243025_41243026delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031151.4, RCV000048450.2, RCV000131891.2,