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rs864622149

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Breast cancer associated mutation
(C;G) 6 Breast cancer associated mutation
(G;G) 0 common in clinvar
(G;T) 6 Breast cancer associated mutation


Make rs864622149(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28710005
GeneCHEK2
is asnp
is mentioned by
dbSNPrs864622149
dbSNP (classic)rs864622149
ClinGenrs864622149
ebirs864622149
HLIrs864622149
Exacrs864622149
Gnomadrs864622149
Varsomers864622149
LitVarrs864622149
Maprs864622149
PheGenIrs864622149
Biobankrs864622149
1000 genomesrs864622149
hgdprs864622149
ensemblrs864622149
geneviewrs864622149
scholarrs864622149
googlers864622149
pharmgkbrs864622149
gwascentralrs864622149
openSNPrs864622149
23andMers864622149
SNPshotrs864622149
SNPdbers864622149
MSV3drs864622149
GWAS Ctlgrs864622149
Max Magnitude6
ClinVar
Risk rs864622149(C;C)
Alt rs864622149(C;C)
Reference Rs864622149(G;G)
Significance Probable-Pathogenic
Disease Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene CHEK2
CLNDBN Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000022.10:g.29105993C>G; NC_000022.10:g.29105993C>T
CLNSRC
CLNACC RCV000206880.2, RCV000218773.1, RCV000255179.1, RCV000492671.1,