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rs756250205

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756250205(A;A)
Make rs756250205(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28689191
GeneCHEK2
is asnp
is mentioned by
dbSNPrs756250205
ebirs756250205
HLIrs756250205
Exacrs756250205
Varsomers756250205
Maprs756250205
PheGenIrs756250205
hapmaprs756250205
1000 genomesrs756250205
hgdprs756250205
ensemblrs756250205
gopubmedrs756250205
geneviewrs756250205
scholarrs756250205
googlers756250205
pharmgkbrs756250205
gwascentralrs756250205
openSNPrs756250205
23andMers756250205
23andMe allrs756250205
SNP Nexus

SNPshotrs756250205
SNPdbers756250205
MSV3drs756250205
GWAS Ctlgrs756250205
Max Magnitude0
ClinVar
Risk rs756250205(A;A)
Alt rs756250205(A;A)
Reference rs756250205(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.29085179G>A
CLNSRC
CLNACC RCV000219822.1,