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rs80357684

From SNPedia

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


Make rs80357684(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051111
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357684
ebirs80357684
HLIrs80357684
Exacrs80357684
Varsomers80357684
Maprs80357684
PheGenIrs80357684
hapmaprs80357684
1000 genomesrs80357684
hgdprs80357684
ensemblrs80357684
gopubmedrs80357684
geneviewrs80357684
scholarrs80357684
googlers80357684
pharmgkbrs80357684
gwascentralrs80357684
openSNPrs80357684
23andMers80357684
23andMe allrs80357684
SNP Nexus

SNPshotrs80357684
SNPdbers80357684
MSV3drs80357684
GWAS Ctlgrs80357684
Max Magnitude6
rs80357684, also known as 5403delA, c.5284_5284delA and p.Arg1762Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357684(;)
Alt rs80357684(;)
Reference rs80357684(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.41203128delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048909.2, RCV000112601.2,