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rs397509044

From SNPedia

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


Make rs397509044(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092363
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509044
dbSNP (classic)rs397509044
ClinGenrs397509044
ebirs397509044
HLIrs397509044
Exacrs397509044
Gnomadrs397509044
Varsomers397509044
LitVarrs397509044
Maprs397509044
PheGenIrs397509044
Biobankrs397509044
1000 genomesrs397509044
hgdprs397509044
ensemblrs397509044
geneviewrs397509044
scholarrs397509044
googlers397509044
pharmgkbrs397509044
gwascentralrs397509044
openSNPrs397509044
23andMers397509044
SNPshotrs397509044
SNPdbers397509044
MSV3drs397509044
GWAS Ctlgrs397509044
Max Magnitude6
ClinVar
Risk rs397509044(-;-)
Alt rs397509044(-;-)
Reference Rs397509044(C;C)
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.41244380delG
CLNSRC ClinVar
CLNACC RCV000048089.2, RCV000257543.2,