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rs121908702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Breast cancer associated mutation
Make rs121908702(A;A)
Make rs121908702(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position28711986
GeneCHEK2
is asnp
is mentioned by
dbSNPrs121908702
dbSNP (classic)rs121908702
ClinGenrs121908702
ebirs121908702
HLIrs121908702
Exacrs121908702
Gnomadrs121908702
Varsomers121908702
LitVarrs121908702
Maprs121908702
PheGenIrs121908702
Biobankrs121908702
1000 genomesrs121908702
hgdprs121908702
ensemblrs121908702
geneviewrs121908702
scholarrs121908702
googlers121908702
pharmgkbrs121908702
gwascentralrs121908702
openSNPrs121908702
23andMers121908702
SNPshotrs121908702
SNPdbers121908702
MSV3drs121908702
GWAS Ctlgrs121908702
Max Magnitude6
OMIM604373
Desc
Variant0010
Relatedalso
OMIM604373
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908702(A;A) rs121908702(T;T)
Alt rs121908702(A;A) rs121908702(T;T)
Reference Rs121908702(G;G)
Significance Pathogenic
Disease Prostate cancer Hereditary cancer-predisposing syndrome not provided Familial cancer of breast not specified
Variation info
Gene CHEK2
CLNDBN Prostate cancer, somatic Hereditary cancer-predisposing syndrome not provided Familial cancer of breast not specified
Reversed 1
HGVS NC_000022.10:g.29107974C>A; NC_000022.10:g.29107974C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005947.5, RCV000166320.2, RCV000005948.5, RCV000114762.1, RCV000131201.6, RCV000205850.3, RCV000212434.3,


[PMID 12533788OA-icon.png] Mutations in CHEK2 associated with prostate cancer risk.