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rs397508947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AGAA) 6 BRCA1 variant considered pathogenic for breast cancer
(AGAA;AGAA) 0 common in clinvar


Make rs397508947(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093335
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508947
dbSNP (classic)rs397508947
ClinGenrs397508947
ebirs397508947
HLIrs397508947
Exacrs397508947
Gnomadrs397508947
Varsomers397508947
LitVarrs397508947
Maprs397508947
PheGenIrs397508947
Biobankrs397508947
1000 genomesrs397508947
hgdprs397508947
ensemblrs397508947
geneviewrs397508947
scholarrs397508947
googlers397508947
pharmgkbrs397508947
gwascentralrs397508947
openSNPrs397508947
23andMers397508947
SNPshotrs397508947
SNPdbers397508947
MSV3drs397508947
GWAS Ctlgrs397508947
Max Magnitude6

aka c.787+1406_787+1409del

ClinVar
Risk rs397508947(-;-)
Alt rs397508947(-;-)
Reference Rs397508947(AGAA;AGAA)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245352_41245355delTTCT
CLNSRC ClinVar
CLNACC RCV000047750.2,