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rs200432447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200432447(C;C)
Make rs200432447(C;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position28687974
GeneCHEK2
is asnp
is mentioned by
dbSNPrs200432447
dbSNP (classic)rs200432447
ClinGenrs200432447
ebirs200432447
HLIrs200432447
Exacrs200432447
Gnomadrs200432447
Varsomers200432447
LitVarrs200432447
Maprs200432447
PheGenIrs200432447
Biobankrs200432447
1000 genomesrs200432447
hgdprs200432447
ensemblrs200432447
geneviewrs200432447
scholarrs200432447
googlers200432447
pharmgkbrs200432447
gwascentralrs200432447
openSNPrs200432447
23andMers200432447
SNPshotrs200432447
SNPdbers200432447
MSV3drs200432447
GWAS Ctlgrs200432447
Max Magnitude0
ClinVar
Risk rs200432447(A;A) rs200432447(C;C)
Alt rs200432447(A;A) rs200432447(C;C)
Reference Rs200432447(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast and colorectal cancer not provided Familial cancer of breast
Variation info
Gene CHEK2
CLNDBN Hereditary cancer-predisposing syndrome Breast and colorectal cancer, susceptibility to not provided Familial cancer of breast
Reversed 0
HGVS NC_000022.10:g.29083962G>A
CLNSRC ClinVar GeneDx
CLNACC RCV000116005.6, RCV000210124.1, RCV000212474.2, RCV000471222.1,