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rs397509170

From SNPedia

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


Make rs397509170(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076576
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509170
dbSNP (classic)rs397509170
ClinGenrs397509170
ebirs397509170
HLIrs397509170
Exacrs397509170
Gnomadrs397509170
Varsomers397509170
LitVarrs397509170
Maprs397509170
PheGenIrs397509170
Biobankrs397509170
1000 genomesrs397509170
hgdprs397509170
ensemblrs397509170
geneviewrs397509170
scholarrs397509170
googlers397509170
pharmgkbrs397509170
gwascentralrs397509170
openSNPrs397509170
23andMers397509170
SNPshotrs397509170
SNPdbers397509170
MSV3drs397509170
GWAS Ctlgrs397509170
Max Magnitude6

aka c.4396dupA and also c.4396delA; the first is considered likely to be pathogenic for breast cancer in ClinVar, while the latter is unannotated

ClinVar
Risk
Alt
Reference Rs397509170(A;A)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.11:g.43076576delT
CLNSRC ClinVar
CLNACC RCV000048550.2,