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rs121908943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908943(A;A)
Make rs121908943(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position32800200
GeneDNMT3B
is asnp
is mentioned by
dbSNPrs121908943
dbSNP (classic)rs121908943
ClinGenrs121908943
ebirs121908943
HLIrs121908943
Exacrs121908943
Gnomadrs121908943
Varsomers121908943
LitVarrs121908943
Maprs121908943
PheGenIrs121908943
Biobankrs121908943
1000 genomesrs121908943
hgdprs121908943
ensemblrs121908943
geneviewrs121908943
scholarrs121908943
googlers121908943
pharmgkbrs121908943
gwascentralrs121908943
openSNPrs121908943
23andMers121908943
SNPshotrs121908943
SNPdbers121908943
MSV3drs121908943
GWAS Ctlgrs121908943
Max Magnitude0
OMIM602900
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908943(A;A)
Alt rs121908943(A;A)
Reference Rs121908943(G;G)
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.31388006G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007132.4,