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rs690016538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs690016538(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32331024
GeneBRCA2
is asnp
is mentioned by
dbSNPrs690016538
dbSNP (classic)rs690016538
ClinGenrs690016538
ebirs690016538
HLIrs690016538
Exacrs690016538
Gnomadrs690016538
Varsomers690016538
LitVarrs690016538
Maprs690016538
PheGenIrs690016538
Biobankrs690016538
1000 genomesrs690016538
hgdprs690016538
ensemblrs690016538
geneviewrs690016538
scholarrs690016538
googlers690016538
pharmgkbrs690016538
gwascentralrs690016538
openSNPrs690016538
23andMers690016538
SNPshotrs690016538
SNPdbers690016538
MSV3drs690016538
GWAS Ctlgrs690016538
Max Magnitude6
ClinVar
Risk rs690016538(A;A)
Alt rs690016538(A;A)
Reference Rs690016538(-;-)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32905161dupA
CLNSRC VariO
CLNACC RCV000149511.1, RCV000241045.1,