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rs80357676

From SNPedia

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


Make rs80357676(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057086
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357676
ebirs80357676
HLIrs80357676
Exacrs80357676
Varsomers80357676
Maprs80357676
PheGenIrs80357676
hapmaprs80357676
1000 genomesrs80357676
hgdprs80357676
ensemblrs80357676
gopubmedrs80357676
geneviewrs80357676
scholarrs80357676
googlers80357676
pharmgkbrs80357676
gwascentralrs80357676
openSNPrs80357676
23andMers80357676
23andMe allrs80357676
SNP Nexus

SNPshotrs80357676
SNPdbers80357676
MSV3drs80357676
GWAS Ctlgrs80357676
Max Magnitude6
rs80357676, also known as 5362delG, c.5243_5243delG and p.Gly1748Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357676(;)
Alt rs80357676(;)
Reference rs80357676(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.41209103delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048879.2, RCV000112577.1,