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rs397508945

From SNPedia

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


Make rs397508945(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093354
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508945
dbSNP (classic)rs397508945
ClinGenrs397508945
ebirs397508945
HLIrs397508945
Exacrs397508945
Gnomadrs397508945
Varsomers397508945
LitVarrs397508945
Maprs397508945
PheGenIrs397508945
Biobankrs397508945
1000 genomesrs397508945
hgdprs397508945
ensemblrs397508945
geneviewrs397508945
scholarrs397508945
googlers397508945
pharmgkbrs397508945
gwascentralrs397508945
openSNPrs397508945
23andMers397508945
SNPshotrs397508945
SNPdbers397508945
MSV3drs397508945
GWAS Ctlgrs397508945
Max Magnitude6
ClinVar
Risk rs397508945(-;-)
Alt rs397508945(-;-)
Reference Rs397508945(CT;CT)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245371_41245372delAG
CLNSRC ClinVar
CLNACC RCV000047743.3, RCV000257838.2,