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rs397509056

From SNPedia

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


Make rs397509056(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092202
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509056
dbSNP (classic)rs397509056
ClinGenrs397509056
ebirs397509056
HLIrs397509056
Exacrs397509056
Gnomadrs397509056
Varsomers397509056
LitVarrs397509056
Maprs397509056
PheGenIrs397509056
Biobankrs397509056
1000 genomesrs397509056
hgdprs397509056
ensemblrs397509056
geneviewrs397509056
scholarrs397509056
googlers397509056
pharmgkbrs397509056
gwascentralrs397509056
openSNPrs397509056
23andMers397509056
SNPshotrs397509056
SNPdbers397509056
MSV3drs397509056
GWAS Ctlgrs397509056
Max Magnitude6

rs397509056 was merged into rs80357575

ClinVar
Risk rs397509056(-;-)
Alt rs397509056(-;-)
Reference Rs397509056(A;A)
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.41244219delT
CLNSRC ClinVar
CLNACC RCV000048147.3, RCV000257078.2,