Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 Normal
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357161(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092419
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357161
ClinGenrs80357161
ebirs80357161
HLIrs80357161
Exacrs80357161
Varsomers80357161
Maprs80357161
PheGenIrs80357161
hapmaprs80357161
1000 genomesrs80357161
hgdprs80357161
ensemblrs80357161
gopubmedrs80357161
geneviewrs80357161
scholarrs80357161
googlers80357161
pharmgkbrs80357161
gwascentralrs80357161
openSNPrs80357161
23andMers80357161
23andMe allrs80357161
SNP Nexus

SNPshotrs80357161
SNPdbers80357161
MSV3drs80357161
GWAS Ctlgrs80357161
Max Magnitude6
rs80357161, also known as E1038X, c.3112G>T and p.Glu1038Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357161(T;T)
Alt rs80357161(T;T)
Reference Rs80357161(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244436C>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031090.6, RCV000048073.2, RCV000131907.2,