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rs80357468

From SNPedia

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


Make rs80357468(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094415
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357468
ebirs80357468
HLIrs80357468
Exacrs80357468
Varsomers80357468
Maprs80357468
PheGenIrs80357468
hapmaprs80357468
1000 genomesrs80357468
hgdprs80357468
ensemblrs80357468
gopubmedrs80357468
geneviewrs80357468
scholarrs80357468
googlers80357468
pharmgkbrs80357468
gwascentralrs80357468
openSNPrs80357468
23andMers80357468
23andMe allrs80357468
SNP Nexus

SNPshotrs80357468
SNPdbers80357468
MSV3drs80357468
GWAS Ctlgrs80357468
Max Magnitude6
rs80357468, also known as W372X, c.1116G>A and p.Trp372Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357468(A;A)
Alt rs80357468(A;A)
Reference rs80357468(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41246432C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000047348.4, RCV000111553.1, RCV000131844.2, RCV000235123.1,