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rs397508828

From SNPedia

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


Make rs397508828(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094491
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508828
dbSNP (classic)rs397508828
ClinGenrs397508828
ebirs397508828
HLIrs397508828
Exacrs397508828
Gnomadrs397508828
Varsomers397508828
LitVarrs397508828
Maprs397508828
PheGenIrs397508828
Biobankrs397508828
1000 genomesrs397508828
hgdprs397508828
ensemblrs397508828
geneviewrs397508828
scholarrs397508828
googlers397508828
pharmgkbrs397508828
gwascentralrs397508828
openSNPrs397508828
23andMers397508828
SNPshotrs397508828
SNPdbers397508828
MSV3drs397508828
GWAS Ctlgrs397508828
Max Magnitude6

aka c.787+253del

ClinVar
Risk rs397508828(-;-)
Alt rs397508828(-;-)
Reference Rs397508828(T;T)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246508delA
CLNSRC ClinVar
CLNACC RCV000047317.2,