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rs80357349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357349(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071236
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357349
ebirs80357349
HLIrs80357349
Exacrs80357349
Varsomers80357349
Maprs80357349
PheGenIrs80357349
hapmaprs80357349
1000 genomesrs80357349
hgdprs80357349
ensemblrs80357349
gopubmedrs80357349
geneviewrs80357349
scholarrs80357349
googlers80357349
pharmgkbrs80357349
gwascentralrs80357349
openSNPrs80357349
23andMers80357349
23andMe allrs80357349
SNP Nexus

SNPshotrs80357349
SNPdbers80357349
MSV3drs80357349
GWAS Ctlgrs80357349
Max Magnitude6
rs80357349, also known as G1560X, c.4678G>T and p.Gly1560Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357349(T;T)
Alt rs80357349(T;T)
Reference rs80357349(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41223253C>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048626.2, RCV000077583.3, RCV000131834.2,