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rs80357686

From SNPedia

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


Make rs80357686(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092242
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357686
ebirs80357686
HLIrs80357686
Exacrs80357686
Varsomers80357686
Maprs80357686
PheGenIrs80357686
hapmaprs80357686
1000 genomesrs80357686
hgdprs80357686
ensemblrs80357686
gopubmedrs80357686
geneviewrs80357686
scholarrs80357686
googlers80357686
pharmgkbrs80357686
gwascentralrs80357686
openSNPrs80357686
23andMers80357686
23andMe allrs80357686
SNP Nexus

SNPshotrs80357686
SNPdbers80357686
MSV3drs80357686
GWAS Ctlgrs80357686
Max Magnitude6
rs80357686, also known as 3407delAA, c.3288_3289delAA and p.Gln1096_Ser1097=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357686(;)
Alt rs80357686(;)
Reference rs80357686(AA;AA)
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.41244259_41244260delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048125.2, RCV000112048.1,