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rs876659250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Breast cancer associated mutation
Make rs876659250(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28694034
GeneCHEK2
is asnp
is mentioned by
dbSNPrs876659250
dbSNP (classic)rs876659250
ClinGenrs876659250
ebirs876659250
HLIrs876659250
Exacrs876659250
Gnomadrs876659250
Varsomers876659250
LitVarrs876659250
Maprs876659250
PheGenIrs876659250
Biobankrs876659250
1000 genomesrs876659250
hgdprs876659250
ensemblrs876659250
geneviewrs876659250
scholarrs876659250
googlers876659250
pharmgkbrs876659250
gwascentralrs876659250
openSNPrs876659250
23andMers876659250
SNPshotrs876659250
SNPdbers876659250
MSV3drs876659250
GWAS Ctlgrs876659250
Max Magnitude6
ClinVar
Risk rs876659250(T;T)
Alt rs876659250(T;T)
Reference Rs876659250(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene CHEK2
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000022.10:g.29090022G>A
CLNSRC
CLNACC RCV000214536.1,