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rs80357791

From SNPedia

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


Make rs80357791(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43057088
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357791
ebirs80357791
HLIrs80357791
Exacrs80357791
Varsomers80357791
Maprs80357791
PheGenIrs80357791
hapmaprs80357791
1000 genomesrs80357791
hgdprs80357791
ensemblrs80357791
gopubmedrs80357791
geneviewrs80357791
scholarrs80357791
googlers80357791
pharmgkbrs80357791
gwascentralrs80357791
openSNPrs80357791
23andMers80357791
23andMe allrs80357791
SNP Nexus

SNPshotrs80357791
SNPdbers80357791
MSV3drs80357791
GWAS Ctlgrs80357791
Max Magnitude6
rs80357791, also known as 5360delA, c.5241_5241delA and p.Gln1747=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357791(;)
Alt rs80357791(;)
Reference rs80357791(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41209105delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112576.1,