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rs80357942

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357942(-;-)
Make rs80357942(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092782
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357942
ebirs80357942
HLIrs80357942
Exacrs80357942
Varsomers80357942
Maprs80357942
PheGenIrs80357942
hapmaprs80357942
1000 genomesrs80357942
hgdprs80357942
ensemblrs80357942
gopubmedrs80357942
geneviewrs80357942
scholarrs80357942
googlers80357942
pharmgkbrs80357942
gwascentralrs80357942
openSNPrs80357942
23andMers80357942
23andMe allrs80357942
SNP Nexus

SNPshotrs80357942
SNPdbers80357942
MSV3drs80357942
GWAS Ctlgrs80357942
Max Magnitude6
rs80357942, also known as 2867insA, c.2748_2749insA and p.Asn916_Ile917?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357942(A;A)
Alt rs80357942(A;A)
Reference rs80357942(;)
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.41244799dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047957.2, RCV000111931.1,