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rs1805129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs1805129(A;G)
Make rs1805129(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position28734470
GeneCHEK2
is asnp
is mentioned by
dbSNPrs1805129
ebirs1805129
HLIrs1805129
Exacrs1805129
Varsomers1805129
Maprs1805129
PheGenIrs1805129
hapmaprs1805129
1000 genomesrs1805129
hgdprs1805129
ensemblrs1805129
gopubmedrs1805129
geneviewrs1805129
scholarrs1805129
googlers1805129
pharmgkbrs1805129
gwascentralrs1805129
openSNPrs1805129
23andMers1805129
23andMe allrs1805129
SNP Nexus

SNPshotrs1805129
SNPdbers1805129
MSV3drs1805129
GWAS Ctlgrs1805129
GMAF0.04362
Max Magnitude0
? (A;A) (A;G) (G;G) 28

This SNP represents a silent polymorphism in the cancer-associated cell cycle regulator CHEK2 gene.


ClinVar
Risk rs1805129(G;G)
Alt rs1805129(G;G)
Reference rs1805129(A;A)
Significance Non-pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene CHEK2
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000022.10:g.29130458T>C
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000130990.2,