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rs397507826

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507826(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340434
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507826
dbSNP (classic)rs397507826
ClinGenrs397507826
ebirs397507826
HLIrs397507826
Exacrs397507826
Gnomadrs397507826
Varsomers397507826
LitVarrs397507826
Maprs397507826
PheGenIrs397507826
Biobankrs397507826
1000 genomesrs397507826
hgdprs397507826
ensemblrs397507826
geneviewrs397507826
scholarrs397507826
googlers397507826
pharmgkbrs397507826
gwascentralrs397507826
openSNPrs397507826
23andMers397507826
SNPshotrs397507826
SNPdbers397507826
MSV3drs397507826
GWAS Ctlgrs397507826
Max Magnitude6

aka c.6079dupA (p.Arg2027Lysfs)

23andMe name: i5010530

ClinVar
Risk rs397507826(A;A)
Alt rs397507826(A;A)
Reference Rs397507826(-;-)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914571dupA
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044837.2, RCV000076953.7, RCV000132018.3,