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rs397508932

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar
Make rs397508932(CC;CC)
Make rs397508932(CC;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093494
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508932
dbSNP (classic)rs397508932
ClinGenrs397508932
ebirs397508932
HLIrs397508932
Exacrs397508932
Gnomadrs397508932
Varsomers397508932
LitVarrs397508932
Maprs397508932
PheGenIrs397508932
Biobankrs397508932
1000 genomesrs397508932
hgdprs397508932
ensemblrs397508932
geneviewrs397508932
scholarrs397508932
googlers397508932
pharmgkbrs397508932
gwascentralrs397508932
openSNPrs397508932
23andMers397508932
SNPshotrs397508932
SNPdbers397508932
MSV3drs397508932
GWAS Ctlgrs397508932
Max Magnitude6
ClinVar
Risk rs397508932(CC;CC)
Alt rs397508932(CC;CC)
Reference Rs397508932(G;G)
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.41245511delCinsGG
CLNSRC ClinVar
CLNACC RCV000047690.3, RCV000257195.2,