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rs397507912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507912(C;G)
Make rs397507912(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position32355219
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507912
dbSNP (classic)rs397507912
ClinGenrs397507912
ebirs397507912
HLIrs397507912
Exacrs397507912
Gnomadrs397507912
Varsomers397507912
LitVarrs397507912
Maprs397507912
PheGenIrs397507912
Biobankrs397507912
1000 genomesrs397507912
hgdprs397507912
ensemblrs397507912
geneviewrs397507912
scholarrs397507912
googlers397507912
pharmgkbrs397507912
gwascentralrs397507912
openSNPrs397507912
23andMers397507912
SNPshotrs397507912
SNPdbers397507912
MSV3drs397507912
GWAS Ctlgrs397507912
Max Magnitude6
ClinVar
Risk rs397507912(G;G) rs397507912(T;T)
Alt rs397507912(G;G) rs397507912(T;T)
Reference Rs397507912(C;C)
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.32929356C>G; NC_000013.10:g.32929356C>T
CLNSRC
CLNACC RCV000045192.2, RCV000220866.1, RCV000257405.2,