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rs876659250

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876659250(C;T)
Make rs876659250(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28694034
GeneCHEK2
is asnp
is mentioned by
dbSNPrs876659250
ebirs876659250
HLIrs876659250
Exacrs876659250
Varsomers876659250
Maprs876659250
PheGenIrs876659250
hapmaprs876659250
1000 genomesrs876659250
hgdprs876659250
ensemblrs876659250
gopubmedrs876659250
geneviewrs876659250
scholarrs876659250
googlers876659250
pharmgkbrs876659250
gwascentralrs876659250
openSNPrs876659250
23andMers876659250
23andMe allrs876659250
SNP Nexus

SNPshotrs876659250
SNPdbers876659250
MSV3drs876659250
GWAS Ctlgrs876659250
Max Magnitude0
ClinVar
Risk rs876659250(T;T)
Alt rs876659250(T;T)
Reference rs876659250(C;C)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene CHEK2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000022.10:g.29090022G>A
CLNSRC
CLNACC RCV000214536.1,