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rs397509047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509047(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092319
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509047
dbSNP (classic)rs397509047
ClinGenrs397509047
ebirs397509047
HLIrs397509047
Exacrs397509047
Gnomadrs397509047
Varsomers397509047
LitVarrs397509047
Maprs397509047
PheGenIrs397509047
Biobankrs397509047
1000 genomesrs397509047
hgdprs397509047
ensemblrs397509047
geneviewrs397509047
scholarrs397509047
googlers397509047
pharmgkbrs397509047
gwascentralrs397509047
openSNPrs397509047
23andMers397509047
SNPshotrs397509047
SNPdbers397509047
MSV3drs397509047
GWAS Ctlgrs397509047
Max Magnitude6

aka c.788-1288dup

ClinVar
Risk rs397509047(G;G)
Alt rs397509047(G;G)
Reference Rs397509047(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244337dupC
CLNSRC ClinVar
CLNACC RCV000048100.2,