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rs397508870

From SNPedia

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


Make rs397508870(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094128
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508870
dbSNP (classic)rs397508870
ClinGenrs397508870
ebirs397508870
HLIrs397508870
Exacrs397508870
Gnomadrs397508870
Varsomers397508870
LitVarrs397508870
Maprs397508870
PheGenIrs397508870
Biobankrs397508870
1000 genomesrs397508870
hgdprs397508870
ensemblrs397508870
geneviewrs397508870
scholarrs397508870
googlers397508870
pharmgkbrs397508870
gwascentralrs397508870
openSNPrs397508870
23andMers397508870
SNPshotrs397508870
SNPdbers397508870
MSV3drs397508870
GWAS Ctlgrs397508870
Max Magnitude6
ClinVar
Risk rs397508870(-;-)
Alt rs397508870(-;-)
Reference Rs397508870(A;A)
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.41246145delT
CLNSRC ClinVar
CLNACC RCV000047465.2, RCV000256662.2,