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rs80357318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Normal
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357318(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091594
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357318
ebirs80357318
HLIrs80357318
Exacrs80357318
Varsomers80357318
Maprs80357318
PheGenIrs80357318
hapmaprs80357318
1000 genomesrs80357318
hgdprs80357318
ensemblrs80357318
gopubmedrs80357318
geneviewrs80357318
scholarrs80357318
googlers80357318
pharmgkbrs80357318
gwascentralrs80357318
openSNPrs80357318
23andMers80357318
23andMe allrs80357318
SNP Nexus

SNPshotrs80357318
SNPdbers80357318
MSV3drs80357318
GWAS Ctlgrs80357318
Max Magnitude6
rs80357318, also known as Q1313X, c.3937C>T and p.Gln1313Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357318(T;T)
Alt rs80357318(T;T)
Reference rs80357318(C;C)
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.41243611G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031137.4, RCV000048386.2, RCV000131882.2,