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

rs80357768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357768(-;-)
Make rs80357768(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093637
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357768
ebirs80357768
HLIrs80357768
Exacrs80357768
Varsomers80357768
Maprs80357768
PheGenIrs80357768
hapmaprs80357768
1000 genomesrs80357768
hgdprs80357768
ensemblrs80357768
gopubmedrs80357768
geneviewrs80357768
scholarrs80357768
googlers80357768
pharmgkbrs80357768
gwascentralrs80357768
openSNPrs80357768
23andMers80357768
23andMe allrs80357768
SNP Nexus

SNPshotrs80357768
SNPdbers80357768
MSV3drs80357768
GWAS Ctlgrs80357768
Max Magnitude6
rs80357768, also known as 2012insT, c.1893_1894insT and p.Leu631_Ser632?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357768(T;T)
Alt rs80357768(T;T)
Reference rs80357768(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245654_41245655insA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111723.1,