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rs483353120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs483353120(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32356461
GeneBRCA2
is asnp
is mentioned by
dbSNPrs483353120
dbSNP (classic)rs483353120
ClinGenrs483353120
ebirs483353120
HLIrs483353120
Exacrs483353120
Gnomadrs483353120
Varsomers483353120
LitVarrs483353120
Maprs483353120
PheGenIrs483353120
Biobankrs483353120
1000 genomesrs483353120
hgdprs483353120
ensemblrs483353120
geneviewrs483353120
scholarrs483353120
googlers483353120
pharmgkbrs483353120
gwascentralrs483353120
openSNPrs483353120
23andMers483353120
SNPshotrs483353120
SNPdbers483353120
MSV3drs483353120
GWAS Ctlgrs483353120
Max Magnitude6
ClinVar
Risk rs483353120(T;T)
Alt rs483353120(T;T)
Reference Rs483353120(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32930598dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113765.2,