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rs397509297

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397509297(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045716
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509297
dbSNP (classic)rs397509297
ClinGenrs397509297
ebirs397509297
HLIrs397509297
Exacrs397509297
Gnomadrs397509297
Varsomers397509297
LitVarrs397509297
Maprs397509297
PheGenIrs397509297
Biobankrs397509297
1000 genomesrs397509297
hgdprs397509297
ensemblrs397509297
geneviewrs397509297
scholarrs397509297
googlers397509297
pharmgkbrs397509297
gwascentralrs397509297
openSNPrs397509297
23andMers397509297
SNPshotrs397509297
SNPdbers397509297
MSV3drs397509297
GWAS Ctlgrs397509297
Max Magnitude6

aka c.*67dupC

ClinVar
Risk rs397509297(C;C)
Alt rs397509297(C;C)
Reference Rs397509297(-;-)
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.41197734dupG
CLNSRC ClinVar
CLNACC RCV000049047.2, RCV000256895.2,