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

rs80357759

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TG) 6 BRCA1 variant considered pathogenic for breast cancer
(GT;GT) 0 common in clinvar
Make rs80357759(-;-)
Make rs80357759(TG;TG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094636
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357759
ebirs80357759
HLIrs80357759
Exacrs80357759
Varsomers80357759
Maprs80357759
PheGenIrs80357759
hapmaprs80357759
1000 genomesrs80357759
hgdprs80357759
ensemblrs80357759
gopubmedrs80357759
geneviewrs80357759
scholarrs80357759
googlers80357759
pharmgkbrs80357759
gwascentralrs80357759
openSNPrs80357759
23andMers80357759
23andMe allrs80357759
SNP Nexus

SNPshotrs80357759
SNPdbers80357759
MSV3drs80357759
GWAS Ctlgrs80357759
Max Magnitude6
rs80357759, also known as 1013delTG, c.894_895delTG and p.Asn298_Val299AsnArgfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357759(;)
Alt rs80357759(;)
Reference rs80357759(GT;GT)
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.41246652_41246653delAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049179.3, RCV000111504.3,