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rs397509128

From SNPedia

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


Make rs397509128(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091526
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509128
dbSNP (classic)rs397509128
ClinGenrs397509128
ebirs397509128
HLIrs397509128
Exacrs397509128
Gnomadrs397509128
Varsomers397509128
LitVarrs397509128
Maprs397509128
PheGenIrs397509128
Biobankrs397509128
1000 genomesrs397509128
hgdprs397509128
ensemblrs397509128
geneviewrs397509128
scholarrs397509128
googlers397509128
pharmgkbrs397509128
gwascentralrs397509128
openSNPrs397509128
23andMers397509128
SNPshotrs397509128
SNPdbers397509128
MSV3drs397509128
GWAS Ctlgrs397509128
Max Magnitude6
ClinVar
Risk rs397509128(-;-)
Alt rs397509128(-;-)
Reference Rs397509128(TCTG;TCTG)
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.41243543_41243546delCAGA
CLNSRC ClinVar
CLNACC RCV000048407.2, RCV000257824.2,