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rs778989252

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs778989252(C;C)
Make rs778989252(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28695187
GeneCHEK2
is asnp
is mentioned by
dbSNPrs778989252
ebirs778989252
HLIrs778989252
Exacrs778989252
Varsomers778989252
Maprs778989252
PheGenIrs778989252
hapmaprs778989252
1000 genomesrs778989252
hgdprs778989252
ensemblrs778989252
gopubmedrs778989252
geneviewrs778989252
scholarrs778989252
googlers778989252
pharmgkbrs778989252
gwascentralrs778989252
openSNPrs778989252
23andMers778989252
23andMe allrs778989252
SNP Nexus

SNPshotrs778989252
SNPdbers778989252
MSV3drs778989252
GWAS Ctlgrs778989252
Max Magnitude0
ClinVar
Risk rs778989252(C;C)
Alt rs778989252(C;C)
Reference rs778989252(G;G)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene CHEK2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000022.10:g.29091175G>A
CLNSRC
CLNACC RCV000217777.1,