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rs121908944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908944(G;G)
Make rs121908944(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position32805343
GeneDNMT3B
is asnp
is mentioned by
dbSNPrs121908944
dbSNP (classic)rs121908944
ClinGenrs121908944
ebirs121908944
HLIrs121908944
Exacrs121908944
Gnomadrs121908944
Varsomers121908944
LitVarrs121908944
Maprs121908944
PheGenIrs121908944
Biobankrs121908944
1000 genomesrs121908944
hgdprs121908944
ensemblrs121908944
geneviewrs121908944
scholarrs121908944
googlers121908944
pharmgkbrs121908944
gwascentralrs121908944
openSNPrs121908944
23andMers121908944
SNPshotrs121908944
SNPdbers121908944
MSV3drs121908944
GWAS Ctlgrs121908944
Max Magnitude0
OMIM602900
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908944(G;G)
Alt rs121908944(G;G)
Reference Rs121908944(T;T)
Significance Pathogenic
Disease Centromeric instability of chromosomes 1
Variation info
Gene DNMT3B
CLNDBN Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Reversed 0
HGVS NC_000020.10:g.31393149T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007134.4,