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rs397509182

From SNPedia

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


Make rs397509182(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074478
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509182
dbSNP (classic)rs397509182
ClinGenrs397509182
ebirs397509182
HLIrs397509182
Exacrs397509182
Gnomadrs397509182
Varsomers397509182
LitVarrs397509182
Maprs397509182
PheGenIrs397509182
Biobankrs397509182
1000 genomesrs397509182
hgdprs397509182
ensemblrs397509182
geneviewrs397509182
scholarrs397509182
googlers397509182
pharmgkbrs397509182
gwascentralrs397509182
openSNPrs397509182
23andMers397509182
SNPshotrs397509182
SNPdbers397509182
MSV3drs397509182
GWAS Ctlgrs397509182
Max Magnitude6

aka c.4528delA

ClinVar
Risk rs397509182(-;-)
Alt rs397509182(-;-)
Reference Rs397509182(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.41226495delT
CLNSRC ClinVar
CLNACC RCV000048587.2, RCV000241516.1,