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rs397509008

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509008(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092785
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509008
dbSNP (classic)rs397509008
ClinGenrs397509008
ebirs397509008
HLIrs397509008
Exacrs397509008
Gnomadrs397509008
Varsomers397509008
LitVarrs397509008
Maprs397509008
PheGenIrs397509008
Biobankrs397509008
1000 genomesrs397509008
hgdprs397509008
ensemblrs397509008
geneviewrs397509008
scholarrs397509008
googlers397509008
pharmgkbrs397509008
gwascentralrs397509008
openSNPrs397509008
23andMers397509008
SNPshotrs397509008
SNPdbers397509008
MSV3drs397509008
GWAS Ctlgrs397509008
Max Magnitude6

aka c.788-1754dup

ClinVar
Risk rs397509008(T;T)
Alt rs397509008(T;T)
Reference Rs397509008(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244803dupA
CLNSRC ClinVar
CLNACC RCV000047956.2,