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rs80357709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357709(-;-)
Make rs80357709(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104156
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357709
ebirs80357709
HLIrs80357709
Exacrs80357709
Varsomers80357709
Maprs80357709
PheGenIrs80357709
hapmaprs80357709
1000 genomesrs80357709
hgdprs80357709
ensemblrs80357709
gopubmedrs80357709
geneviewrs80357709
scholarrs80357709
googlers80357709
pharmgkbrs80357709
gwascentralrs80357709
openSNPrs80357709
23andMers80357709
23andMe allrs80357709
SNP Nexus

SNPshotrs80357709
SNPdbers80357709
MSV3drs80357709
GWAS Ctlgrs80357709
Max Magnitude6
rs80357709, also known as 525insA, c.406_407insA and p.Arg136?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357709(A;A)
Alt rs80357709(A;A)
Reference rs80357709(;)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41256174dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048433.3, RCV000112503.1,