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rs397508944

From SNPedia

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


Make rs397508944(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093357
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508944
dbSNP (classic)rs397508944
ClinGenrs397508944
ebirs397508944
HLIrs397508944
Exacrs397508944
Gnomadrs397508944
Varsomers397508944
LitVarrs397508944
Maprs397508944
PheGenIrs397508944
Biobankrs397508944
1000 genomesrs397508944
hgdprs397508944
ensemblrs397508944
geneviewrs397508944
scholarrs397508944
googlers397508944
pharmgkbrs397508944
gwascentralrs397508944
openSNPrs397508944
23andMers397508944
SNPshotrs397508944
SNPdbers397508944
MSV3drs397508944
GWAS Ctlgrs397508944
Max Magnitude6

aka c.787+1387del

ClinVar
Risk rs397508944(-;-)
Alt rs397508944(-;-)
Reference Rs397508944(G;G)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245374delC
CLNSRC ClinVar
CLNACC RCV000047741.2,