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rs397509069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509069(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092080
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509069
dbSNP (classic)rs397509069
ClinGenrs397509069
ebirs397509069
HLIrs397509069
Exacrs397509069
Gnomadrs397509069
Varsomers397509069
LitVarrs397509069
Maprs397509069
PheGenIrs397509069
Biobankrs397509069
1000 genomesrs397509069
hgdprs397509069
ensemblrs397509069
geneviewrs397509069
scholarrs397509069
googlers397509069
pharmgkbrs397509069
gwascentralrs397509069
openSNPrs397509069
23andMers397509069
SNPshotrs397509069
SNPdbers397509069
MSV3drs397509069
GWAS Ctlgrs397509069
Max Magnitude6

aka c.788-1049dup

ClinVar
Risk rs397509069(T;T)
Alt rs397509069(T;T)
Reference Rs397509069(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244098dupA
CLNSRC ClinVar
CLNACC RCV000048202.2,