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rs397507200

From SNPedia

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


Make rs397507200(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093107
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507200
dbSNP (classic)rs397507200
ClinGenrs397507200
ebirs397507200
HLIrs397507200
Exacrs397507200
Gnomadrs397507200
Varsomers397507200
LitVarrs397507200
Maprs397507200
PheGenIrs397507200
Biobankrs397507200
1000 genomesrs397507200
hgdprs397507200
ensemblrs397507200
geneviewrs397507200
scholarrs397507200
googlers397507200
pharmgkbrs397507200
gwascentralrs397507200
openSNPrs397507200
23andMers397507200
SNPshotrs397507200
SNPdbers397507200
MSV3drs397507200
GWAS Ctlgrs397507200
Max Magnitude6

BRCA1, c.2424delT (p.Phe808Leufs)

ClinVar
Risk rs397507200(-;-)
Alt rs397507200(-;-)
Reference Rs397507200(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245124delA
CLNSRC ClinVar
CLNACC RCV000031048.5,