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rs397509002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509002(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092818
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509002
dbSNP (classic)rs397509002
ClinGenrs397509002
ebirs397509002
HLIrs397509002
Exacrs397509002
Gnomadrs397509002
Varsomers397509002
LitVarrs397509002
Maprs397509002
PheGenIrs397509002
Biobankrs397509002
1000 genomesrs397509002
hgdprs397509002
ensemblrs397509002
geneviewrs397509002
scholarrs397509002
googlers397509002
pharmgkbrs397509002
gwascentralrs397509002
openSNPrs397509002
23andMers397509002
SNPshotrs397509002
SNPdbers397509002
MSV3drs397509002
GWAS Ctlgrs397509002
Max Magnitude6
ClinVar
Risk rs397509002(T;T)
Alt rs397509002(T;T)
Reference Rs397509002(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41244835G>A
CLNSRC ClinVar
CLNACC RCV000047941.3, RCV000225470.2, RCV000484764.1,