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

rs80357904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80357904(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091558
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357904
ebirs80357904
HLIrs80357904
Exacrs80357904
Varsomers80357904
Maprs80357904
PheGenIrs80357904
hapmaprs80357904
1000 genomesrs80357904
hgdprs80357904
ensemblrs80357904
gopubmedrs80357904
geneviewrs80357904
scholarrs80357904
googlers80357904
pharmgkbrs80357904
gwascentralrs80357904
openSNPrs80357904
23andMers80357904
23andMe allrs80357904
SNP Nexus

SNPshotrs80357904
SNPdbers80357904
MSV3drs80357904
GWAS Ctlgrs80357904
Max Magnitude6
rs80357904, also known as 4092delA, c.3973_3973delA and p.Arg1325Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357904(;)
Alt rs80357904(;)
Reference rs80357904(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243575delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048397.2, RCV000112222.2,