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rs80357969

From SNPedia

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


Make rs80357969(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094170
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357969
ebirs80357969
HLIrs80357969
Exacrs80357969
Varsomers80357969
Maprs80357969
PheGenIrs80357969
hapmaprs80357969
1000 genomesrs80357969
hgdprs80357969
ensemblrs80357969
gopubmedrs80357969
geneviewrs80357969
scholarrs80357969
googlers80357969
pharmgkbrs80357969
gwascentralrs80357969
openSNPrs80357969
23andMers80357969
23andMe allrs80357969
SNP Nexus

SNPshotrs80357969
SNPdbers80357969
MSV3drs80357969
GWAS Ctlgrs80357969
Max Magnitude6
rs80357969, also known as 1479delAG, c.1360_1361delAG and p.Ser454Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357969(;)
Alt rs80357969(;)
Reference rs80357969(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.41246187_41246188delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030987.5, RCV000047440.3, RCV000131838.2,