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rs80357943

From SNPedia

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


Make rs80357943(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115736
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357943
ebirs80357943
HLIrs80357943
Exacrs80357943
Varsomers80357943
Maprs80357943
PheGenIrs80357943
hapmaprs80357943
1000 genomesrs80357943
hgdprs80357943
ensemblrs80357943
gopubmedrs80357943
geneviewrs80357943
scholarrs80357943
googlers80357943
pharmgkbrs80357943
gwascentralrs80357943
openSNPrs80357943
23andMers80357943
23andMe allrs80357943
SNP Nexus

SNPshotrs80357943
SNPdbers80357943
MSV3drs80357943
GWAS Ctlgrs80357943
Max Magnitude6
rs80357943, also known as 243delA, c.124_124delA and p.Ile42Tyrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357943(;)
Alt rs80357943(;)
Reference rs80357943(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.41267753delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047391.2, RCV000111825.1,