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rs397507684

From SNPedia

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


Make rs397507684(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338127
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507684
dbSNP (classic)rs397507684
ClinGenrs397507684
ebirs397507684
HLIrs397507684
Exacrs397507684
Gnomadrs397507684
Varsomers397507684
LitVarrs397507684
Maprs397507684
PheGenIrs397507684
Biobankrs397507684
1000 genomesrs397507684
hgdprs397507684
ensemblrs397507684
geneviewrs397507684
scholarrs397507684
googlers397507684
pharmgkbrs397507684
gwascentralrs397507684
openSNPrs397507684
23andMers397507684
SNPshotrs397507684
SNPdbers397507684
MSV3drs397507684
GWAS Ctlgrs397507684
Max Magnitude6

aka c.3772delA (p.Ile1258Terfs)

23andMe name: i5009165

ClinVar
Risk rs397507684(-;-)
Alt rs397507684(-;-)
Reference Rs397507684(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912264delA
CLNSRC ClinVar
CLNACC RCV000044262.2, RCV000241409.2,