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rs587780185

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587780185(A;G)
Make rs587780185(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28725004
GeneCHEK2
is asnp
is mentioned by
dbSNPrs587780185
ebirs587780185
HLIrs587780185
Exacrs587780185
Varsomers587780185
Maprs587780185
PheGenIrs587780185
hapmaprs587780185
1000 genomesrs587780185
hgdprs587780185
ensemblrs587780185
gopubmedrs587780185
geneviewrs587780185
scholarrs587780185
googlers587780185
pharmgkbrs587780185
gwascentralrs587780185
openSNPrs587780185
23andMers587780185
23andMe allrs587780185
SNP Nexus

SNPshotrs587780185
SNPdbers587780185
MSV3drs587780185
GWAS Ctlgrs587780185
Max Magnitude0
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312OA-icon.png]
ClinVar
Risk rs587780185(G;G)
Alt rs587780185(G;G)
Reference rs587780185(A;A)
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.29120992T>C
CLNSRC
CLNACC RCV000116026.5, RCV000212429.1, RCV000230801.1,