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rs397509180

From SNPedia

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


Make rs397509180(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076515
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509180
dbSNP (classic)rs397509180
ClinGenrs397509180
ebirs397509180
HLIrs397509180
Exacrs397509180
Gnomadrs397509180
Varsomers397509180
LitVarrs397509180
Maprs397509180
PheGenIrs397509180
Biobankrs397509180
1000 genomesrs397509180
hgdprs397509180
ensemblrs397509180
geneviewrs397509180
scholarrs397509180
googlers397509180
pharmgkbrs397509180
gwascentralrs397509180
openSNPrs397509180
23andMers397509180
SNPshotrs397509180
SNPdbers397509180
MSV3drs397509180
GWAS Ctlgrs397509180
Max Magnitude6
ClinVar
Risk rs397509180(-;-)
Alt rs397509180(-;-)
Reference Rs397509180(G;G)
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.41228532delC
CLNSRC ClinVar
CLNACC RCV000048565.2, RCV000257366.2,