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rs137853007

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853007(C;T)
Make rs137853007(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position28725254
GeneCHEK2
is asnp
is mentioned by
dbSNPrs137853007
ebirs137853007
HLIrs137853007
Exacrs137853007
Varsomers137853007
Maprs137853007
PheGenIrs137853007
hapmaprs137853007
1000 genomesrs137853007
hgdprs137853007
ensemblrs137853007
gopubmedrs137853007
geneviewrs137853007
scholarrs137853007
googlers137853007
pharmgkbrs137853007
gwascentralrs137853007
openSNPrs137853007
23andMers137853007
23andMe allrs137853007
SNP Nexus

SNPshotrs137853007
SNPdbers137853007
MSV3drs137853007
GWAS Ctlgrs137853007
Max Magnitude0
OMIM604373
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853007(T;T)
Alt rs137853007(T;T)
Reference rs137853007(C;C)
Significance Pathogenic
Disease Li-Fraumeni syndrome 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast not provided
Variation info
Gene CHEK2
CLNDBN Li-Fraumeni syndrome 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast not provided
Reversed 1
HGVS NC_000022.10:g.29121242G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005940.2, RCV000116016.6, RCV000120554.1, RCV000197612.3, RCV000212417.1,