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rs397509127

From SNPedia

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


Make rs397509127(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091530
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509127
dbSNP (classic)rs397509127
ClinGenrs397509127
ebirs397509127
HLIrs397509127
Exacrs397509127
Gnomadrs397509127
Varsomers397509127
LitVarrs397509127
Maprs397509127
PheGenIrs397509127
Biobankrs397509127
1000 genomesrs397509127
hgdprs397509127
ensemblrs397509127
geneviewrs397509127
scholarrs397509127
googlers397509127
pharmgkbrs397509127
gwascentralrs397509127
openSNPrs397509127
23andMers397509127
SNPshotrs397509127
SNPdbers397509127
MSV3drs397509127
GWAS Ctlgrs397509127
Max Magnitude6
ClinVar
Risk rs397509127(-;-)
Alt rs397509127(-;-)
Reference Rs397509127(G;G)
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.41243547delC
CLNSRC ClinVar
CLNACC RCV000048406.2, RCV000257248.2,