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rs397508933

From SNPedia

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


Make rs397508933(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093483
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508933
dbSNP (classic)rs397508933
ClinGenrs397508933
ebirs397508933
HLIrs397508933
Exacrs397508933
Gnomadrs397508933
Varsomers397508933
LitVarrs397508933
Maprs397508933
PheGenIrs397508933
Biobankrs397508933
1000 genomesrs397508933
hgdprs397508933
ensemblrs397508933
geneviewrs397508933
scholarrs397508933
googlers397508933
pharmgkbrs397508933
gwascentralrs397508933
openSNPrs397508933
23andMers397508933
SNPshotrs397508933
SNPdbers397508933
MSV3drs397508933
GWAS Ctlgrs397508933
Max Magnitude6

aka c.787+1261del

ClinVar
Risk rs397508933(-;-)
Alt rs397508933(-;-)
Reference Rs397508933(A;A)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245500delT
CLNSRC ClinVar
CLNACC RCV000047693.2,