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rs80356893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356893(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093919
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356893
ebirs80356893
HLIrs80356893
Exacrs80356893
Varsomers80356893
Maprs80356893
PheGenIrs80356893
hapmaprs80356893
1000 genomesrs80356893
hgdprs80356893
ensemblrs80356893
gopubmedrs80356893
geneviewrs80356893
scholarrs80356893
googlers80356893
pharmgkbrs80356893
gwascentralrs80356893
openSNPrs80356893
23andMers80356893
23andMe allrs80356893
SNP Nexus

SNPshotrs80356893
SNPdbers80356893
MSV3drs80356893
GWAS Ctlgrs80356893
Max Magnitude6
rs80356893, also known as Q538X, c.1612C>T and p.Gln538Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356893(T;T)
Alt rs80356893(T;T)
Reference rs80356893(C;C)
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.41245936G>A
CLNSRC ClinVar
CLNACC RCV000047541.2, RCV000077492.3,