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rs397509267

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509267(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049192
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509267
dbSNP (classic)rs397509267
ClinGenrs397509267
ebirs397509267
HLIrs397509267
Exacrs397509267
Gnomadrs397509267
Varsomers397509267
LitVarrs397509267
Maprs397509267
PheGenIrs397509267
Biobankrs397509267
1000 genomesrs397509267
hgdprs397509267
ensemblrs397509267
geneviewrs397509267
scholarrs397509267
googlers397509267
pharmgkbrs397509267
gwascentralrs397509267
openSNPrs397509267
23andMers397509267
SNPshotrs397509267
SNPdbers397509267
MSV3drs397509267
GWAS Ctlgrs397509267
Max Magnitude6
ClinVar
Risk rs397509267(T;T)
Alt rs397509267(T;T)
Reference Rs397509267(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.41201209G>A
CLNSRC ClinVar
CLNACC RCV000048946.2, RCV000257216.2,