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rs786203053

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6 Breast cancer associated mutation
(D;D) 0 common genotype
Make rs786203053(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position28699925
GeneCHEK2
is asnp
is mentioned by
dbSNPrs786203053
dbSNP (classic)rs786203053
ClinGenrs786203053
ebirs786203053
HLIrs786203053
Exacrs786203053
Gnomadrs786203053
Varsomers786203053
LitVarrs786203053
Maprs786203053
PheGenIrs786203053
Biobankrs786203053
1000 genomesrs786203053
hgdprs786203053
ensemblrs786203053
geneviewrs786203053
scholarrs786203053
googlers786203053
pharmgkbrs786203053
gwascentralrs786203053
openSNPrs786203053
23andMers786203053
SNPshotrs786203053
SNPdbers786203053
MSV3drs786203053
GWAS Ctlgrs786203053
Max Magnitude6
ClinVar
Risk rs786203053(G;G)
Alt rs786203053(G;G)
Reference Rs786203053(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided
Variation info
Gene CHEK2
CLNDBN Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000022.10:g.29095914dupC
CLNSRC
CLNACC RCV000166190.1, RCV000483271.1,