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

rs80357784

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357784(-;-)
Make rs80357784(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093830
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357784
ebirs80357784
HLIrs80357784
Exacrs80357784
Varsomers80357784
Maprs80357784
PheGenIrs80357784
hapmaprs80357784
1000 genomesrs80357784
hgdprs80357784
ensemblrs80357784
gopubmedrs80357784
geneviewrs80357784
scholarrs80357784
googlers80357784
pharmgkbrs80357784
gwascentralrs80357784
openSNPrs80357784
23andMers80357784
23andMe allrs80357784
SNP Nexus

SNPshotrs80357784
SNPdbers80357784
MSV3drs80357784
GWAS Ctlgrs80357784
Max Magnitude6
rs80357784, also known as 1819insA, c.1700_1701insA and p.Asn567?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357784(A;A)
Alt rs80357784(A;A)
Reference rs80357784(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245848dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111666.1,