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

rs80357537

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357537(-;-)
Make rs80357537(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43095847
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357537
ebirs80357537
HLIrs80357537
Exacrs80357537
Varsomers80357537
Maprs80357537
PheGenIrs80357537
hapmaprs80357537
1000 genomesrs80357537
hgdprs80357537
ensemblrs80357537
gopubmedrs80357537
geneviewrs80357537
scholarrs80357537
googlers80357537
pharmgkbrs80357537
gwascentralrs80357537
openSNPrs80357537
23andMers80357537
23andMe allrs80357537
SNP Nexus

SNPshotrs80357537
SNPdbers80357537
MSV3drs80357537
GWAS Ctlgrs80357537
Max Magnitude6
rs80357537, also known as 787insA, c.668_669insA and p.Lys223?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357537(A;A)
Alt rs80357537(A;A)
Reference rs80357537(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41247865dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112757.1,