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rs398122748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs398122748(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336972
GeneBRCA2
is asnp
is mentioned by
dbSNPrs398122748
dbSNP (classic)rs398122748
ClinGenrs398122748
ebirs398122748
HLIrs398122748
Exacrs398122748
Gnomadrs398122748
Varsomers398122748
LitVarrs398122748
Maprs398122748
PheGenIrs398122748
Biobankrs398122748
1000 genomesrs398122748
hgdprs398122748
ensemblrs398122748
geneviewrs398122748
scholarrs398122748
googlers398122748
pharmgkbrs398122748
gwascentralrs398122748
openSNPrs398122748
23andMers398122748
SNPshotrs398122748
SNPdbers398122748
MSV3drs398122748
GWAS Ctlgrs398122748
Max Magnitude6
ClinVar
Risk rs398122748(A;A)
Alt rs398122748(A;A)
Reference Rs398122748(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911109dupA
CLNSRC ClinVar
CLNACC RCV000077687.4,