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rs397507833

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507833(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340557
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507833
dbSNP (classic)rs397507833
ClinGenrs397507833
ebirs397507833
HLIrs397507833
Exacrs397507833
Gnomadrs397507833
Varsomers397507833
LitVarrs397507833
Maprs397507833
PheGenIrs397507833
Biobankrs397507833
1000 genomesrs397507833
hgdprs397507833
ensemblrs397507833
geneviewrs397507833
scholarrs397507833
googlers397507833
pharmgkbrs397507833
gwascentralrs397507833
openSNPrs397507833
23andMers397507833
SNPshotrs397507833
SNPdbers397507833
MSV3drs397507833
GWAS Ctlgrs397507833
Max Magnitude6

aka c.6202dupA (p.Ile2068Asnfs)

ClinVar
Risk rs397507833(A;A)
Alt rs397507833(A;A)
Reference Rs397507833(-;-)
Significance Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914694dupA
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044866.2, RCV000129495.2, RCV000162057.3,