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rs121908940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908940(A;A)
Make rs121908940(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position32807793
GeneDNMT3B
is asnp
is mentioned by
dbSNPrs121908940
dbSNP (classic)rs121908940
ClinGenrs121908940
ebirs121908940
HLIrs121908940
Exacrs121908940
Gnomadrs121908940
Varsomers121908940
LitVarrs121908940
Maprs121908940
PheGenIrs121908940
Biobankrs121908940
1000 genomesrs121908940
hgdprs121908940
ensemblrs121908940
geneviewrs121908940
scholarrs121908940
googlers121908940
pharmgkbrs121908940
gwascentralrs121908940
openSNPrs121908940
23andMers121908940
SNPshotrs121908940
SNPdbers121908940
MSV3drs121908940
GWAS Ctlgrs121908940
Max Magnitude0
OMIM602900
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908940(A;A) rs121908940(T;T)
Alt rs121908940(A;A) rs121908940(T;T)
Reference Rs121908940(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.31395599G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007126.3,