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rs864622149

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864622149(C;C)
Make rs864622149(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28710005
GeneCHEK2
is asnp
is mentioned by
dbSNPrs864622149
ebirs864622149
HLIrs864622149
Exacrs864622149
Varsomers864622149
Maprs864622149
PheGenIrs864622149
hapmaprs864622149
1000 genomesrs864622149
hgdprs864622149
ensemblrs864622149
gopubmedrs864622149
geneviewrs864622149
scholarrs864622149
googlers864622149
pharmgkbrs864622149
gwascentralrs864622149
openSNPrs864622149
23andMers864622149
23andMe allrs864622149
SNP Nexus

SNPshotrs864622149
SNPdbers864622149
MSV3drs864622149
GWAS Ctlgrs864622149
Max Magnitude0
ClinVar
Risk rs864622149(C;C)
Alt rs864622149(C;C)
Reference rs864622149(G;G)
Significance Probable-Pathogenic
Disease Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene CHEK2
CLNDBN Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000022.10:g.29105993C>G
CLNSRC
CLNACC RCV000206880.1, RCV000218773.1,