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rs80357397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357397(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091006
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357397
ebirs80357397
HLIrs80357397
Exacrs80357397
Varsomers80357397
Maprs80357397
PheGenIrs80357397
hapmaprs80357397
1000 genomesrs80357397
hgdprs80357397
ensemblrs80357397
gopubmedrs80357397
geneviewrs80357397
scholarrs80357397
googlers80357397
pharmgkbrs80357397
gwascentralrs80357397
openSNPrs80357397
23andMers80357397
23andMe allrs80357397
SNP Nexus

SNPshotrs80357397
SNPdbers80357397
MSV3drs80357397
GWAS Ctlgrs80357397
Max Magnitude6
rs80357397, also known as E1375X, c.4123G>T and p.Glu1375Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357397(T;T)
Alt rs80357397(T;T)
Reference rs80357397(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.41243023C>A
CLNSRC ClinVar
CLNACC RCV000048452.2, RCV000112266.1,