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rs397509299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509299(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124042
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs397509299
dbSNP (classic)rs397509299
ClinGenrs397509299
ebirs397509299
HLIrs397509299
Exacrs397509299
Gnomadrs397509299
Varsomers397509299
LitVarrs397509299
Maprs397509299
PheGenIrs397509299
Biobankrs397509299
1000 genomesrs397509299
hgdprs397509299
ensemblrs397509299
geneviewrs397509299
scholarrs397509299
googlers397509299
pharmgkbrs397509299
gwascentralrs397509299
openSNPrs397509299
23andMers397509299
SNPshotrs397509299
SNPdbers397509299
MSV3drs397509299
GWAS Ctlgrs397509299
Max Magnitude6
ClinVar
Risk rs397509299(T;T)
Alt rs397509299(T;T)
Reference Rs397509299(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene NBR2 BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41276059G>A
CLNSRC ClinVar
CLNACC RCV000049060.2, RCV000256854.2,