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rs397507420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs397507420(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379893
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507420
dbSNP (classic)rs397507420
ClinGenrs397507420
ebirs397507420
HLIrs397507420
Exacrs397507420
Gnomadrs397507420
Varsomers397507420
LitVarrs397507420
Maprs397507420
PheGenIrs397507420
Biobankrs397507420
1000 genomesrs397507420
hgdprs397507420
ensemblrs397507420
geneviewrs397507420
scholarrs397507420
googlers397507420
pharmgkbrs397507420
gwascentralrs397507420
openSNPrs397507420
23andMers397507420
SNPshotrs397507420
SNPdbers397507420
MSV3drs397507420
GWAS Ctlgrs397507420
Max Magnitude6

aka c.9097delA (p.Thr3033Leufs)

23andMe name: i5010451

ClinVar
Risk rs397507420(-;-)
Alt rs397507420(-;-)
Reference Rs397507420(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32954030delA
CLNSRC ClinVar
CLNACC RCV000031792.6, RCV000045710.2,