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rs397507793

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507793(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339981
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507793
dbSNP (classic)rs397507793
ClinGenrs397507793
ebirs397507793
HLIrs397507793
Exacrs397507793
Gnomadrs397507793
Varsomers397507793
LitVarrs397507793
Maprs397507793
PheGenIrs397507793
Biobankrs397507793
1000 genomesrs397507793
hgdprs397507793
ensemblrs397507793
geneviewrs397507793
scholarrs397507793
googlers397507793
pharmgkbrs397507793
gwascentralrs397507793
openSNPrs397507793
23andMers397507793
SNPshotrs397507793
SNPdbers397507793
MSV3drs397507793
GWAS Ctlgrs397507793
Max Magnitude6
ClinVar
Risk rs397507793(A;A) rs397507793(T;T)
Alt rs397507793(A;A) rs397507793(T;T)
Reference Rs397507793(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914118G>A; NC_000013.10:g.32914118G>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000164837.2, RCV000478038.1, RCV000044700.2, RCV000129291.2, RCV000241406.1,