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rs121908945

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908945(C;T)
Make rs121908945(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position32780411
GeneDNMT3B
is asnp
is mentioned by
dbSNPrs121908945
dbSNP (classic)rs121908945
ClinGenrs121908945
ebirs121908945
HLIrs121908945
Exacrs121908945
Gnomadrs121908945
Varsomers121908945
LitVarrs121908945
Maprs121908945
PheGenIrs121908945
Biobankrs121908945
1000 genomesrs121908945
hgdprs121908945
ensemblrs121908945
geneviewrs121908945
scholarrs121908945
googlers121908945
pharmgkbrs121908945
gwascentralrs121908945
openSNPrs121908945
23andMers121908945
SNPshotrs121908945
SNPdbers121908945
MSV3drs121908945
GWAS Ctlgrs121908945
Max Magnitude0
OMIM602900
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908945(A;A) rs121908945(T;T)
Alt rs121908945(A;A) rs121908945(T;T)
Reference Rs121908945(C;C)
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.31368217C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007135.3,