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rs397508845

From SNPedia

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


Make rs397508845(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094343
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508845
dbSNP (classic)rs397508845
ClinGenrs397508845
ebirs397508845
HLIrs397508845
Exacrs397508845
Gnomadrs397508845
Varsomers397508845
LitVarrs397508845
Maprs397508845
PheGenIrs397508845
Biobankrs397508845
1000 genomesrs397508845
hgdprs397508845
ensemblrs397508845
geneviewrs397508845
scholarrs397508845
googlers397508845
pharmgkbrs397508845
gwascentralrs397508845
openSNPrs397508845
23andMers397508845
SNPshotrs397508845
SNPdbers397508845
MSV3drs397508845
GWAS Ctlgrs397508845
Max Magnitude6

BRCA1, c.1188delT (p.Asp396Glufs)

ClinVar
Risk rs397508845(-;-)
Alt rs397508845(-;-)
Reference Rs397508845(T;T)
Significance Pathogenic
Disease not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246360delA
CLNSRC ClinVar
CLNACC RCV000047374.5, RCV000225758.1, RCV000241521.1,