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rs531398630

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs531398630(A;A)
Make rs531398630(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position28695858
GeneCHEK2
is asnp
is mentioned by
dbSNPrs531398630
dbSNP (classic)rs531398630
ClinGenrs531398630
ebirs531398630
HLIrs531398630
Exacrs531398630
Gnomadrs531398630
Varsomers531398630
LitVarrs531398630
Maprs531398630
PheGenIrs531398630
Biobankrs531398630
1000 genomesrs531398630
hgdprs531398630
ensemblrs531398630
geneviewrs531398630
scholarrs531398630
googlers531398630
pharmgkbrs531398630
gwascentralrs531398630
openSNPrs531398630
23andMers531398630
SNPshotrs531398630
SNPdbers531398630
MSV3drs531398630
GWAS Ctlgrs531398630
Max Magnitude0
ClinVar
Risk rs531398630(A;A)
Alt rs531398630(A;A)
Reference Rs531398630(G;G)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast not specified
Variation info
Gene CHEK2
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast not specified
Reversed 0
HGVS NC_000022.10:g.29091846G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000115982.7, RCV000197709.3, RCV000212449.2,