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rs397509139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;ATCT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509139(ATCT;ATCT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091018
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509139
dbSNP (classic)rs397509139
ClinGenrs397509139
ebirs397509139
HLIrs397509139
Exacrs397509139
Gnomadrs397509139
Varsomers397509139
LitVarrs397509139
Maprs397509139
PheGenIrs397509139
Biobankrs397509139
1000 genomesrs397509139
hgdprs397509139
ensemblrs397509139
geneviewrs397509139
scholarrs397509139
googlers397509139
pharmgkbrs397509139
gwascentralrs397509139
openSNPrs397509139
23andMers397509139
SNPshotrs397509139
SNPdbers397509139
MSV3drs397509139
GWAS Ctlgrs397509139
Max Magnitude6

aka c.3966_3969dupATCT

ClinVar
Risk rs397509139(ATCT;ATCT)
Alt rs397509139(ATCT;ATCT)
Reference Rs397509139(-;-)
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.41243036_41243039dupAGAT
CLNSRC ClinVar
CLNACC RCV000048445.2, RCV000257871.2,