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rs483353122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AG) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs483353122(AG;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32363410
GeneBRCA2
is asnp
is mentioned by
dbSNPrs483353122
dbSNP (classic)rs483353122
ClinGenrs483353122
ebirs483353122
HLIrs483353122
Exacrs483353122
Gnomadrs483353122
Varsomers483353122
LitVarrs483353122
Maprs483353122
PheGenIrs483353122
Biobankrs483353122
1000 genomesrs483353122
hgdprs483353122
ensemblrs483353122
geneviewrs483353122
scholarrs483353122
googlers483353122
pharmgkbrs483353122
gwascentralrs483353122
openSNPrs483353122
23andMers483353122
SNPshotrs483353122
SNPdbers483353122
MSV3drs483353122
GWAS Ctlgrs483353122
Max Magnitude6
ClinVar
Risk rs483353122(AG;AG)
Alt rs483353122(AG;AG)
Reference Rs483353122(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32937547_32937548insAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113888.3,