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rs397508841

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs397508841(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094378
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397508841
dbSNP (classic)rs397508841
ClinGenrs397508841
ebirs397508841
HLIrs397508841
Exacrs397508841
Gnomadrs397508841
Varsomers397508841
LitVarrs397508841
Maprs397508841
PheGenIrs397508841
Biobankrs397508841
1000 genomesrs397508841
hgdprs397508841
ensemblrs397508841
geneviewrs397508841
scholarrs397508841
googlers397508841
pharmgkbrs397508841
gwascentralrs397508841
openSNPrs397508841
23andMers397508841
SNPshotrs397508841
SNPdbers397508841
MSV3drs397508841
GWAS Ctlgrs397508841
Max Magnitude6

aka c.787+365dup

ClinVar
Risk rs397508841(G;G)
Alt rs397508841(G;G)
Reference Rs397508841(-;-)
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.41246396dupC
CLNSRC ClinVar
CLNACC RCV000047362.2, RCV000257206.2,