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rs80357893

From SNPedia

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


Make rs80357893(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092621
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357893
ebirs80357893
HLIrs80357893
Exacrs80357893
Varsomers80357893
Maprs80357893
PheGenIrs80357893
hapmaprs80357893
1000 genomesrs80357893
hgdprs80357893
ensemblrs80357893
gopubmedrs80357893
geneviewrs80357893
scholarrs80357893
googlers80357893
pharmgkbrs80357893
gwascentralrs80357893
openSNPrs80357893
23andMers80357893
23andMe allrs80357893
SNP Nexus

SNPshotrs80357893
SNPdbers80357893
MSV3drs80357893
GWAS Ctlgrs80357893
Max Magnitude6
rs80357893, also known as 3029delA, c.2910_2910delA and p.Lys970Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357893(;)
Alt rs80357893(;)
Reference rs80357893(A;A)
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.41244638delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048004.2, RCV000111961.1,