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

rs80357743

From SNPedia

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


Make rs80357743(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063371
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357743
ebirs80357743
HLIrs80357743
Exacrs80357743
Varsomers80357743
Maprs80357743
PheGenIrs80357743
hapmaprs80357743
1000 genomesrs80357743
hgdprs80357743
ensemblrs80357743
gopubmedrs80357743
geneviewrs80357743
scholarrs80357743
googlers80357743
pharmgkbrs80357743
gwascentralrs80357743
openSNPrs80357743
23andMers80357743
23andMe allrs80357743
SNP Nexus

SNPshotrs80357743
SNPdbers80357743
MSV3drs80357743
GWAS Ctlgrs80357743
Max Magnitude6
rs80357743, also known as 5274delG, c.5155_5155delG and p.Val1719Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357743(;)
Alt rs80357743(;)
Reference rs80357743(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.41215388delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048834.2, RCV000112540.1,