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rs757016287

From SNPedia

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Geno Mag Summary
(ACATCCG;ACATCCG) 0 common in clinvar
Make rs757016287(-;-)
Make rs757016287(-;ACATCCG)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28734702
GeneCHEK2
is asnp
is mentioned by
dbSNPrs757016287
ebirs757016287
HLIrs757016287
Exacrs757016287
Varsomers757016287
Maprs757016287
PheGenIrs757016287
hapmaprs757016287
1000 genomesrs757016287
hgdprs757016287
ensemblrs757016287
gopubmedrs757016287
geneviewrs757016287
scholarrs757016287
googlers757016287
pharmgkbrs757016287
gwascentralrs757016287
openSNPrs757016287
23andMers757016287
23andMe allrs757016287
SNP Nexus

SNPshotrs757016287
SNPdbers757016287
MSV3drs757016287
GWAS Ctlgrs757016287
Max Magnitude0
ClinVar
Risk rs757016287(;)
Alt rs757016287(;)
Reference rs757016287(ACATCCG;ACATCCG)
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.29130690_29130696delACATCCG
CLNSRC
CLNACC RCV000220544.1,