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rs397509239

From SNPedia

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


Make rs397509239(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057122
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509239
dbSNP (classic)rs397509239
ClinGenrs397509239
ebirs397509239
HLIrs397509239
Exacrs397509239
Gnomadrs397509239
Varsomers397509239
LitVarrs397509239
Maprs397509239
PheGenIrs397509239
Biobankrs397509239
1000 genomesrs397509239
hgdprs397509239
ensemblrs397509239
geneviewrs397509239
scholarrs397509239
googlers397509239
pharmgkbrs397509239
gwascentralrs397509239
openSNPrs397509239
23andMers397509239
SNPshotrs397509239
SNPdbers397509239
MSV3drs397509239
GWAS Ctlgrs397509239
Max Magnitude6

aka c.5207delT

ClinVar
Risk rs397509239(-;-)
Alt rs397509239(-;-)
Reference Rs397509239(T;T)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41209139delA
CLNSRC ClinVar
CLNACC RCV000048859.2,