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rs397508943

From SNPedia

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


Make rs397508943(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093365
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508943
dbSNP (classic)rs397508943
ClinGenrs397508943
ebirs397508943
HLIrs397508943
Exacrs397508943
Gnomadrs397508943
Varsomers397508943
LitVarrs397508943
Maprs397508943
PheGenIrs397508943
Biobankrs397508943
1000 genomesrs397508943
hgdprs397508943
ensemblrs397508943
geneviewrs397508943
scholarrs397508943
googlers397508943
pharmgkbrs397508943
gwascentralrs397508943
openSNPrs397508943
23andMers397508943
SNPshotrs397508943
SNPdbers397508943
MSV3drs397508943
GWAS Ctlgrs397508943
Max Magnitude6

aka c.787+1379del

ClinVar
Risk rs397508943(-;-)
Alt rs397508943(-;-)
Reference Rs397508943(C;C)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245382delG
CLNSRC ClinVar
CLNACC RCV000047738.2,