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

rs80357909

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357909(-;-)
Make rs80357909(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093294
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357909
ebirs80357909
HLIrs80357909
Exacrs80357909
Varsomers80357909
Maprs80357909
PheGenIrs80357909
hapmaprs80357909
1000 genomesrs80357909
hgdprs80357909
ensemblrs80357909
gopubmedrs80357909
geneviewrs80357909
scholarrs80357909
googlers80357909
pharmgkbrs80357909
gwascentralrs80357909
openSNPrs80357909
23andMers80357909
23andMe allrs80357909
SNP Nexus

SNPshotrs80357909
SNPdbers80357909
MSV3drs80357909
GWAS Ctlgrs80357909
Max Magnitude6
rs80357909, also known as 2355insG, c.2236_2237insG and p.Asp746?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357909(G;G)
Alt rs80357909(G;G)
Reference rs80357909(;)
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.41245312dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047769.2, RCV000111805.1,