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

rs397509059

From SNPedia

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


Make rs397509059(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092176
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509059
dbSNP (classic)rs397509059
ClinGenrs397509059
ebirs397509059
HLIrs397509059
Exacrs397509059
Gnomadrs397509059
Varsomers397509059
LitVarrs397509059
Maprs397509059
PheGenIrs397509059
Biobankrs397509059
1000 genomesrs397509059
hgdprs397509059
ensemblrs397509059
geneviewrs397509059
scholarrs397509059
googlers397509059
pharmgkbrs397509059
gwascentralrs397509059
openSNPrs397509059
23andMers397509059
SNPshotrs397509059
SNPdbers397509059
MSV3drs397509059
GWAS Ctlgrs397509059
Max Magnitude6
ClinVar
Risk rs397509059(-;-)
Alt rs397509059(-;-)
Reference Rs397509059(GA;GA)
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.41244193_41244194delTC
CLNSRC ClinVar
CLNACC RCV000048161.2, RCV000256763.2,