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rs397509092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509092(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091837
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509092
dbSNP (classic)rs397509092
ClinGenrs397509092
ebirs397509092
HLIrs397509092
Exacrs397509092
Gnomadrs397509092
Varsomers397509092
LitVarrs397509092
Maprs397509092
PheGenIrs397509092
Biobankrs397509092
1000 genomesrs397509092
hgdprs397509092
ensemblrs397509092
geneviewrs397509092
scholarrs397509092
googlers397509092
pharmgkbrs397509092
gwascentralrs397509092
openSNPrs397509092
23andMers397509092
SNPshotrs397509092
SNPdbers397509092
MSV3drs397509092
GWAS Ctlgrs397509092
Max Magnitude6

aka c.788-808dup

ClinVar
Risk rs397509092(T;T)
Alt rs397509092(T;T)
Reference Rs397509092(-;-)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243855dupA
CLNSRC ClinVar
CLNACC RCV000048283.2, RCV000257092.2,