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rs397508047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397508047(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394763
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397508047
dbSNP (old)rs397508047
ClinGenrs397508047
ebirs397508047
HLIrs397508047
Exacrs397508047
Gnomadrs397508047
Varsomers397508047
Maprs397508047
PheGenIrs397508047
Biobankrs397508047
1000 genomesrs397508047
hgdprs397508047
ensemblrs397508047
gopubmedrs397508047
geneviewrs397508047
scholarrs397508047
googlers397508047
pharmgkbrs397508047
gwascentralrs397508047
openSNPrs397508047
23andMers397508047
23andMe allrs397508047
SNP Nexus

SNPshotrs397508047
SNPdbers397508047
MSV3drs397508047
GWAS Ctlgrs397508047
Max Magnitude6
ClinVar
Risk rs397508047(A;A) rs397508047(T;T)
Alt rs397508047(A;A) rs397508047(T;T)
Reference Rs397508047(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast not provided Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast not provided Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32968900G>A; NC_000013.10:g.32968900G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000214353.1, RCV000045794.4, RCV000130826.3, RCV000212289.2, RCV000241167.1,