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rs80357503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357503(-;-)
Make rs80357503(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093092
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357503
ebirs80357503
HLIrs80357503
Exacrs80357503
Varsomers80357503
Maprs80357503
PheGenIrs80357503
hapmaprs80357503
1000 genomesrs80357503
hgdprs80357503
ensemblrs80357503
gopubmedrs80357503
geneviewrs80357503
scholarrs80357503
googlers80357503
pharmgkbrs80357503
gwascentralrs80357503
openSNPrs80357503
23andMers80357503
23andMe allrs80357503
SNP Nexus

SNPshotrs80357503
SNPdbers80357503
MSV3drs80357503
GWAS Ctlgrs80357503
Max Magnitude6
rs80357503, also known as 2557insG, c.2438_2439insG and p.Gly813?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357503(G;G)
Alt rs80357503(G;G)
Reference rs80357503(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245110dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111863.1,