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rs80357106

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357106(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092212
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357106
ebirs80357106
HLIrs80357106
Exacrs80357106
Varsomers80357106
Maprs80357106
PheGenIrs80357106
hapmaprs80357106
1000 genomesrs80357106
hgdprs80357106
ensemblrs80357106
gopubmedrs80357106
geneviewrs80357106
scholarrs80357106
googlers80357106
pharmgkbrs80357106
gwascentralrs80357106
openSNPrs80357106
23andMers80357106
23andMe allrs80357106
SNP Nexus

SNPshotrs80357106
SNPdbers80357106
MSV3drs80357106
GWAS Ctlgrs80357106
Max Magnitude6
rs80357106, also known as E1107X, c.3319G>T and p.Glu1107Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357106(T;T)
Alt rs80357106(T;T)
Reference rs80357106(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.41244229C>A
CLNSRC ClinVar
CLNACC RCV000048141.2, RCV000112058.1,