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rs397508967

From SNPedia

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


Make rs397508967(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093102
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508967
dbSNP (classic)rs397508967
ClinGenrs397508967
ebirs397508967
HLIrs397508967
Exacrs397508967
Gnomadrs397508967
Varsomers397508967
LitVarrs397508967
Maprs397508967
PheGenIrs397508967
Biobankrs397508967
1000 genomesrs397508967
hgdprs397508967
ensemblrs397508967
geneviewrs397508967
scholarrs397508967
googlers397508967
pharmgkbrs397508967
gwascentralrs397508967
openSNPrs397508967
23andMers397508967
SNPshotrs397508967
SNPdbers397508967
MSV3drs397508967
GWAS Ctlgrs397508967
Max Magnitude6
ClinVar
Risk rs397508967(-;-)
Alt rs397508967(-;-)
Reference Rs397508967(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.41245119delT
CLNSRC ClinVar
CLNACC RCV000047837.2, RCV000257456.2,