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rs864622453

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AGAA) 6 Breast cancer associated mutation
Make rs864622453(AGAA;AGAA)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28725085
GeneCHEK2
is asnp
is mentioned by
dbSNPrs864622453
dbSNP (classic)rs864622453
ClinGenrs864622453
ebirs864622453
HLIrs864622453
Exacrs864622453
Gnomadrs864622453
Varsomers864622453
LitVarrs864622453
Maprs864622453
PheGenIrs864622453
Biobankrs864622453
1000 genomesrs864622453
hgdprs864622453
ensemblrs864622453
geneviewrs864622453
scholarrs864622453
googlers864622453
pharmgkbrs864622453
gwascentralrs864622453
openSNPrs864622453
23andMers864622453
SNPshotrs864622453
SNPdbers864622453
MSV3drs864622453
GWAS Ctlgrs864622453
Max Magnitude6
ClinVar
Risk rs864622453(AGAA;AGAA)
Alt rs864622453(AGAA;AGAA)
Reference Rs864622453(-;-)
Significance Pathogenic
Disease Familial cancer of breast
Variation info
Gene CHEK2
CLNDBN Familial cancer of breast
Reversed 1
HGVS NC_000022.10:g.29121074_29121077dupTTCT
CLNSRC
CLNACC RCV000206009.1,