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rs397509135

From SNPedia

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


Make rs397509135(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091462
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509135
dbSNP (classic)rs397509135
ClinGenrs397509135
ebirs397509135
HLIrs397509135
Exacrs397509135
Gnomadrs397509135
Varsomers397509135
LitVarrs397509135
Maprs397509135
PheGenIrs397509135
Biobankrs397509135
1000 genomesrs397509135
hgdprs397509135
ensemblrs397509135
geneviewrs397509135
scholarrs397509135
googlers397509135
pharmgkbrs397509135
gwascentralrs397509135
openSNPrs397509135
23andMers397509135
SNPshotrs397509135
SNPdbers397509135
MSV3drs397509135
GWAS Ctlgrs397509135
Max Magnitude6
ClinVar
Risk rs397509135(-;-)
Alt rs397509135(-;-)
Reference Rs397509135(CAAG;CAAG)
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.41243479_41243482delCTTG
CLNSRC ClinVar
CLNACC RCV000048432.2, RCV000257395.2,