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rs80357282

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357282(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093691
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357282
ebirs80357282
HLIrs80357282
Exacrs80357282
Varsomers80357282
Maprs80357282
PheGenIrs80357282
hapmaprs80357282
1000 genomesrs80357282
hgdprs80357282
ensemblrs80357282
gopubmedrs80357282
geneviewrs80357282
scholarrs80357282
googlers80357282
pharmgkbrs80357282
gwascentralrs80357282
openSNPrs80357282
23andMers80357282
23andMe allrs80357282
SNP Nexus

SNPshotrs80357282
SNPdbers80357282
MSV3drs80357282
GWAS Ctlgrs80357282
Max Magnitude6
rs80357282, also known as K614X, c.1840A>T and p.Lys614Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357282(C,T;C,T)
Alt rs80357282(C,T;C,T)
Reference rs80357282(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.41245708T>A
CLNSRC ClinVar
CLNACC RCV000047607.2, RCV000111698.1,