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

rs80357582

From SNPedia

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


Make rs80357582(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045778
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357582
dbSNP (classic)rs80357582
ClinGenrs80357582
ebirs80357582
HLIrs80357582
Exacrs80357582
Gnomadrs80357582
Varsomers80357582
LitVarrs80357582
Maprs80357582
PheGenIrs80357582
Biobankrs80357582
1000 genomesrs80357582
hgdprs80357582
ensemblrs80357582
geneviewrs80357582
scholarrs80357582
googlers80357582
pharmgkbrs80357582
gwascentralrs80357582
openSNPrs80357582
23andMers80357582
SNPshotrs80357582
SNPdbers80357582
MSV3drs80357582
GWAS Ctlgrs80357582
Max Magnitude6

BRCA1, c.5492delC (p.Pro1831Leufs)

ClinVar
Risk rs80357582(-;-)
Alt rs80357582(-;-)
Reference Rs80357582(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not specified
Reversed 1
HGVS NC_000017.10:g.41197795delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049015.2, RCV000112680.3, RCV000238684.1,