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

rs80357546

From SNPedia

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


Make rs80357546(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093140
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357546
ebirs80357546
HLIrs80357546
Exacrs80357546
Varsomers80357546
Maprs80357546
PheGenIrs80357546
hapmaprs80357546
1000 genomesrs80357546
hgdprs80357546
ensemblrs80357546
gopubmedrs80357546
geneviewrs80357546
scholarrs80357546
googlers80357546
pharmgkbrs80357546
gwascentralrs80357546
openSNPrs80357546
23andMers80357546
23andMe allrs80357546
SNP Nexus

SNPshotrs80357546
SNPdbers80357546
MSV3drs80357546
GWAS Ctlgrs80357546
Max Magnitude6
rs80357546, also known as 2509delAA, c.2390_2391delAA and p.Glu797Alafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357546(;)
Alt rs80357546(;)
Reference rs80357546(AA;AA)
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.41245157_41245158delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047822.2, RCV000111840.1,