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rs397508916

From SNPedia

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


Make rs397508916(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093625
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508916
dbSNP (classic)rs397508916
ClinGenrs397508916
ebirs397508916
HLIrs397508916
Exacrs397508916
Gnomadrs397508916
Varsomers397508916
LitVarrs397508916
Maprs397508916
PheGenIrs397508916
Biobankrs397508916
1000 genomesrs397508916
hgdprs397508916
ensemblrs397508916
geneviewrs397508916
scholarrs397508916
googlers397508916
pharmgkbrs397508916
gwascentralrs397508916
openSNPrs397508916
23andMers397508916
SNPshotrs397508916
SNPdbers397508916
MSV3drs397508916
GWAS Ctlgrs397508916
Max Magnitude6
ClinVar
Risk rs397508916(-;-)
Alt rs397508916(-;-)
Reference Rs397508916(T;T)
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.41245642delA
CLNSRC ClinVar
CLNACC RCV000047632.2, RCV000257257.2,