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

rs80357536

From SNPedia

Orientationminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(-;TGTC) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
Make rs80357536(-;-)
Make rs80357536(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43124026
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357536
ebirs80357536
HLIrs80357536
Exacrs80357536
Varsomers80357536
Maprs80357536
PheGenIrs80357536
hapmaprs80357536
1000 genomesrs80357536
hgdprs80357536
ensemblrs80357536
gopubmedrs80357536
geneviewrs80357536
scholarrs80357536
googlers80357536
pharmgkbrs80357536
gwascentralrs80357536
openSNPrs80357536
23andMers80357536
23andMe allrs80357536
SNP Nexus

SNPshotrs80357536
SNPdbers80357536
MSV3drs80357536
GWAS Ctlgrs80357536
Max Magnitude6
rs80357536, also known as 189insA, c.70_71insA and p.Cys24?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357536(AG,TGTCG;AG,TGTCG)
Alt rs80357536(AG,TGTCG;AG,TGTCG)
Reference rs80357536(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene NBR2 BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41276043_41276044insGACA; NC_000017.10:g.41276043_41276044insT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111681.1, RCV000111680.1,