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rs80357857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357857(-;-)
Make rs80357857(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092068
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357857
ebirs80357857
HLIrs80357857
Exacrs80357857
Varsomers80357857
Maprs80357857
PheGenIrs80357857
hapmaprs80357857
1000 genomesrs80357857
hgdprs80357857
ensemblrs80357857
gopubmedrs80357857
geneviewrs80357857
scholarrs80357857
googlers80357857
pharmgkbrs80357857
gwascentralrs80357857
openSNPrs80357857
23andMers80357857
23andMe allrs80357857
SNP Nexus

SNPshotrs80357857
SNPdbers80357857
MSV3drs80357857
GWAS Ctlgrs80357857
Max Magnitude6
rs80357857, also known as 3581insA, c.3462_3463insA and p.Leu1154_Asp1155?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357857(A;A)
Alt rs80357857(A;A)
Reference rs80357857(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244086dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112101.2,