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rs28909980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28909980(A;A)
Make rs28909980(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28696957
GeneCHEK2
is asnp
is mentioned by
dbSNPrs28909980
dbSNP (classic)rs28909980
ClinGenrs28909980
ebirs28909980
HLIrs28909980
Exacrs28909980
Gnomadrs28909980
Varsomers28909980
LitVarrs28909980
Maprs28909980
PheGenIrs28909980
Biobankrs28909980
1000 genomesrs28909980
hgdprs28909980
ensemblrs28909980
geneviewrs28909980
scholarrs28909980
googlers28909980
pharmgkbrs28909980
gwascentralrs28909980
openSNPrs28909980
23andMers28909980
SNPshotrs28909980
SNPdbers28909980
MSV3drs28909980
GWAS Ctlgrs28909980
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs28909980(A;A)
Alt rs28909980(A;A)
Reference Rs28909980(G;G)
Significance Probable-Pathogenic
Disease not provided Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene CHEK2
CLNDBN not provided Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000022.10:g.29092945C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000160431.3, RCV000205583.2, RCV000221549.1,