Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357656(-;-)
Make rs80357656(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43071022
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357656
ebirs80357656
HLIrs80357656
Exacrs80357656
Varsomers80357656
Maprs80357656
PheGenIrs80357656
hapmaprs80357656
1000 genomesrs80357656
hgdprs80357656
ensemblrs80357656
gopubmedrs80357656
geneviewrs80357656
scholarrs80357656
googlers80357656
pharmgkbrs80357656
gwascentralrs80357656
openSNPrs80357656
23andMers80357656
23andMe allrs80357656
SNP Nexus

SNPshotrs80357656
SNPdbers80357656
MSV3drs80357656
GWAS Ctlgrs80357656
Max Magnitude6
rs80357656, also known as 5010insA, c.4891_4892insA and p.Ser1631?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357656(A;A)
Alt rs80357656(A;A)
Reference rs80357656(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41223040dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112417.1,