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rs80357219

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs80357219(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049182
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357219
ebirs80357219
HLIrs80357219
Exacrs80357219
Varsomers80357219
Maprs80357219
PheGenIrs80357219
hapmaprs80357219
1000 genomesrs80357219
hgdprs80357219
ensemblrs80357219
gopubmedrs80357219
geneviewrs80357219
scholarrs80357219
googlers80357219
pharmgkbrs80357219
gwascentralrs80357219
openSNPrs80357219
23andMers80357219
23andMe allrs80357219
SNP Nexus

SNPshotrs80357219
SNPdbers80357219
MSV3drs80357219
GWAS Ctlgrs80357219
Max Magnitude6
rs80357219, also known as W1782X, c.5345G>A and p.Trp1782Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357219(A;A)
Alt rs80357219(A;A)
Reference rs80357219(G;G)
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.41201199C>T
CLNSRC ClinVar
CLNACC RCV000048951.2, RCV000112626.1,