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

rs80357947

From SNPedia

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


Make rs80357947(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094013
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357947
ebirs80357947
HLIrs80357947
Exacrs80357947
Varsomers80357947
Maprs80357947
PheGenIrs80357947
hapmaprs80357947
1000 genomesrs80357947
hgdprs80357947
ensemblrs80357947
gopubmedrs80357947
geneviewrs80357947
scholarrs80357947
googlers80357947
pharmgkbrs80357947
gwascentralrs80357947
openSNPrs80357947
23andMers80357947
23andMe allrs80357947
SNP Nexus

SNPshotrs80357947
SNPdbers80357947
MSV3drs80357947
GWAS Ctlgrs80357947
Max Magnitude6
rs80357947, also known as 1637delG, c.1518_1518delG and p.Arg506=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357947(;)
Alt rs80357947(;)
Reference rs80357947(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246030delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111639.1, RCV000166974.1,