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rs483353117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs483353117(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32340453
GeneBRCA2
is asnp
is mentioned by
dbSNPrs483353117
dbSNP (classic)rs483353117
ClinGenrs483353117
ebirs483353117
HLIrs483353117
Exacrs483353117
Gnomadrs483353117
Varsomers483353117
LitVarrs483353117
Maprs483353117
PheGenIrs483353117
Biobankrs483353117
1000 genomesrs483353117
hgdprs483353117
ensemblrs483353117
geneviewrs483353117
scholarrs483353117
googlers483353117
pharmgkbrs483353117
gwascentralrs483353117
openSNPrs483353117
23andMers483353117
SNPshotrs483353117
SNPdbers483353117
MSV3drs483353117
GWAS Ctlgrs483353117
Max Magnitude6
ClinVar
Risk rs483353117(T;T)
Alt rs483353117(T;T)
Reference Rs483353117(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914590dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113530.2,