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

rs80357860

From SNPedia

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


Make rs80357860(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093325
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357860
ebirs80357860
HLIrs80357860
Exacrs80357860
Varsomers80357860
Maprs80357860
PheGenIrs80357860
hapmaprs80357860
1000 genomesrs80357860
hgdprs80357860
ensemblrs80357860
gopubmedrs80357860
geneviewrs80357860
scholarrs80357860
googlers80357860
pharmgkbrs80357860
gwascentralrs80357860
openSNPrs80357860
23andMers80357860
23andMe allrs80357860
SNP Nexus

SNPshotrs80357860
SNPdbers80357860
MSV3drs80357860
GWAS Ctlgrs80357860
Max Magnitude6
rs80357860, also known as 2325delG, c.2206_2206delG and p.Glu736Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357860(;)
Alt rs80357860(;)
Reference rs80357860(G;G)
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.41245342delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047757.2, RCV000083180.3,