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rs397507819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs397507819(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340347
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507819
dbSNP (classic)rs397507819
ClinGenrs397507819
ebirs397507819
HLIrs397507819
Exacrs397507819
Gnomadrs397507819
Varsomers397507819
LitVarrs397507819
Maprs397507819
PheGenIrs397507819
Biobankrs397507819
1000 genomesrs397507819
hgdprs397507819
ensemblrs397507819
geneviewrs397507819
scholarrs397507819
googlers397507819
pharmgkbrs397507819
gwascentralrs397507819
openSNPrs397507819
23andMers397507819
SNPshotrs397507819
SNPdbers397507819
MSV3drs397507819
GWAS Ctlgrs397507819
Max Magnitude6
ClinVar
Risk rs397507819(G;G) rs397507819(T;T)
Alt rs397507819(G;G) rs397507819(T;T)
Reference Rs397507819(C;C)
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.32914484C>G; NC_000013.10:g.32914484C>T
CLNSRC ClinVar
CLNACC RCV000220234.1, RCV000484598.1, RCV000044814.2, RCV000257054.2,