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rs587780192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780192(C;C)
Make rs587780192(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28699929
GeneCHEK2
is asnp
is mentioned by
dbSNPrs587780192
dbSNP (old)rs587780192
ClinGenrs587780192
ebirs587780192
HLIrs587780192
Exacrs587780192
Gnomadrs587780192
Varsomers587780192
Maprs587780192
PheGenIrs587780192
Biobankrs587780192
1000 genomesrs587780192
hgdprs587780192
ensemblrs587780192
gopubmedrs587780192
geneviewrs587780192
scholarrs587780192
googlers587780192
pharmgkbrs587780192
gwascentralrs587780192
openSNPrs587780192
23andMers587780192
23andMe allrs587780192
SNP Nexus

SNPshotrs587780192
SNPdbers587780192
MSV3drs587780192
GWAS Ctlgrs587780192
Max Magnitude0
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]
ClinVar
Risk rs587780192(A;A) rs587780192(C;C)
Alt rs587780192(A;A) rs587780192(C;C)
Reference Rs587780192(G;G)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation info
Gene CHEK2
CLNDBN Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed 1
HGVS NC_000022.10:g.29095917C>G; NC_000022.10:g.29095917C>T
CLNSRC
CLNACC RCV000116033.8, RCV000212440.2, RCV000228767.2, RCV000221992.1, RCV000255080.1, RCV000464724.1,