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rs397508017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397508017(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379452
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397508017
dbSNP (classic)rs397508017
ClinGenrs397508017
ebirs397508017
HLIrs397508017
Exacrs397508017
Gnomadrs397508017
Varsomers397508017
LitVarrs397508017
Maprs397508017
PheGenIrs397508017
Biobankrs397508017
1000 genomesrs397508017
hgdprs397508017
ensemblrs397508017
geneviewrs397508017
scholarrs397508017
googlers397508017
pharmgkbrs397508017
gwascentralrs397508017
openSNPrs397508017
23andMers397508017
SNPshotrs397508017
SNPdbers397508017
MSV3drs397508017
GWAS Ctlgrs397508017
Max Magnitude6

aka c.8890dupA

ClinVar
Risk rs397508017(A;A)
Alt rs397508017(A;A)
Reference Rs397508017(-;-)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32953589dupA
CLNSRC ClinVar
CLNACC RCV000045648.2,