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

rs80357611

From SNPedia

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


Make rs80357611(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092610
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357611
ebirs80357611
HLIrs80357611
Exacrs80357611
Varsomers80357611
Maprs80357611
PheGenIrs80357611
hapmaprs80357611
1000 genomesrs80357611
hgdprs80357611
ensemblrs80357611
gopubmedrs80357611
geneviewrs80357611
scholarrs80357611
googlers80357611
pharmgkbrs80357611
gwascentralrs80357611
openSNPrs80357611
23andMers80357611
23andMe allrs80357611
SNP Nexus

SNPshotrs80357611
SNPdbers80357611
MSV3drs80357611
GWAS Ctlgrs80357611
Max Magnitude6
rs80357611, also known as 3039delTT, c.2920_2921delTT and p.Leu974Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357611(;)
Alt rs80357611(;)
Reference rs80357611(TT;TT)
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.41244627_41244628delAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048009.2, RCV000111964.1,