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rs730881687

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730881687(A;A)
Make rs730881687(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position28710060
GeneCHEK2
is asnp
is mentioned by
dbSNPrs730881687
ebirs730881687
HLIrs730881687
Exacrs730881687
Varsomers730881687
Maprs730881687
PheGenIrs730881687
hapmaprs730881687
1000 genomesrs730881687
hgdprs730881687
ensemblrs730881687
gopubmedrs730881687
geneviewrs730881687
scholarrs730881687
googlers730881687
pharmgkbrs730881687
gwascentralrs730881687
openSNPrs730881687
23andMers730881687
23andMe allrs730881687
SNP Nexus

SNPshotrs730881687
SNPdbers730881687
MSV3drs730881687
GWAS Ctlgrs730881687
Max Magnitude0
ClinVar
Risk rs730881687(A,T;A,T)
Alt rs730881687(A,T;A,T)
Reference rs730881687(G;G)
Significance Probable-Pathogenic
Disease not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene CHEK2
CLNDBN not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000022.10:g.29106048C>T
CLNSRC
CLNACC RCV000160429.2, RCV000214915.1,