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rs80357933

From SNPedia

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


Make rs80357933(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093619
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357933
ebirs80357933
HLIrs80357933
Exacrs80357933
Varsomers80357933
Maprs80357933
PheGenIrs80357933
hapmaprs80357933
1000 genomesrs80357933
hgdprs80357933
ensemblrs80357933
gopubmedrs80357933
geneviewrs80357933
scholarrs80357933
googlers80357933
pharmgkbrs80357933
gwascentralrs80357933
openSNPrs80357933
23andMers80357933
23andMe allrs80357933
SNP Nexus

SNPshotrs80357933
SNPdbers80357933
MSV3drs80357933
GWAS Ctlgrs80357933
Max Magnitude6
rs80357933, also known as 2031delG, c.1912_1912delG and p.Glu638Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357933(;)
Alt rs80357933(;)
Reference rs80357933(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.41245636delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047639.2, RCV000111733.1,