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rs80356866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356866(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091690
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356866
ebirs80356866
HLIrs80356866
Exacrs80356866
Varsomers80356866
Maprs80356866
PheGenIrs80356866
hapmaprs80356866
1000 genomesrs80356866
hgdprs80356866
ensemblrs80356866
gopubmedrs80356866
geneviewrs80356866
scholarrs80356866
googlers80356866
pharmgkbrs80356866
gwascentralrs80356866
openSNPrs80356866
23andMers80356866
23andMe allrs80356866
SNP Nexus

SNPshotrs80356866
SNPdbers80356866
MSV3drs80356866
GWAS Ctlgrs80356866
Max Magnitude6
rs80356866, also known as Q1281X, c.3841C>T and p.Gln1281Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356866(T;T)
Alt rs80356866(T;T)
Reference rs80356866(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243707G>A
CLNSRC ClinVar
CLNACC RCV000048350.3, RCV000112195.1, RCV000162868.1,