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rs397509114

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509114(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091659
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509114
dbSNP (classic)rs397509114
ClinGenrs397509114
ebirs397509114
HLIrs397509114
Exacrs397509114
Gnomadrs397509114
Varsomers397509114
LitVarrs397509114
Maprs397509114
PheGenIrs397509114
Biobankrs397509114
1000 genomesrs397509114
hgdprs397509114
ensemblrs397509114
geneviewrs397509114
scholarrs397509114
googlers397509114
pharmgkbrs397509114
gwascentralrs397509114
openSNPrs397509114
23andMers397509114
SNPshotrs397509114
SNPdbers397509114
MSV3drs397509114
GWAS Ctlgrs397509114
Max Magnitude6

aka c.3871_3872insC

ClinVar
Risk rs397509114(C;C)
Alt rs397509114(C;C)
Reference Rs397509114(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41243676_41243677insG
CLNSRC ClinVar
CLNACC RCV000048363.2,