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rs80356945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356945(A;A)
Make rs80356945(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093193
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356945
ebirs80356945
HLIrs80356945
Exacrs80356945
Varsomers80356945
Maprs80356945
PheGenIrs80356945
hapmaprs80356945
1000 genomesrs80356945
hgdprs80356945
ensemblrs80356945
gopubmedrs80356945
geneviewrs80356945
scholarrs80356945
googlers80356945
pharmgkbrs80356945
gwascentralrs80356945
openSNPrs80356945
23andMers80356945
23andMe allrs80356945
SNP Nexus

SNPshotrs80356945
SNPdbers80356945
MSV3drs80356945
GWAS Ctlgrs80356945
Max Magnitude6
rs80356945, also known as Q780X, c.2338C>T and p.Gln780Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356945(A,G,T;A,G,T)
Alt rs80356945(A,G,T;A,G,T)
Reference rs80356945(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245210G>A; NC_000017.10:g.41245210G>C; NC_000017.10:g.41245210G>T
CLNSRC ClinVar Counsyl
CLNACC RCV000047805.3, RCV000077515.5, RCV000162854.1, RCV000077101.2, RCV000165128.1, RCV000199021.1, RCV000047804.2, RCV000111829.1,