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rs17883862

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs17883862(C;T)
Make rs17883862(T;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position28734468
GeneCHEK2
is asnp
is mentioned by
dbSNPrs17883862
ebirs17883862
HLIrs17883862
Exacrs17883862
Varsomers17883862
Maprs17883862
PheGenIrs17883862
hapmaprs17883862
1000 genomesrs17883862
hgdprs17883862
ensemblrs17883862
gopubmedrs17883862
geneviewrs17883862
scholarrs17883862
googlers17883862
pharmgkbrs17883862
gwascentralrs17883862
openSNPrs17883862
23andMers17883862
23andMe allrs17883862
SNP Nexus

SNPshotrs17883862
SNPdbers17883862
MSV3drs17883862
GWAS Ctlgrs17883862
GMAF0.001377
Max Magnitude0
OMIM604373
Desc
Variant0005
Relatedalso


ClinVar
Risk rs17883862(T;T)
Alt rs17883862(T;T)
Reference rs17883862(C;C)
Significance Pathogenic
Disease Osteosarcoma not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene CHEK2
CLNDBN Osteosarcoma not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000022.10:g.29130456G>A; NC_000022.10:g.29130456G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005942.5, RCV000120551.1, RCV000132520.5, RCV000196893.3, RCV000214627.1, RCV000226448.1,



GET Evidence
CHEK2-P85L
aa_change Pro85Leu
aa_change_short P85L
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00204499
summary