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rs547940069

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs547940069(A;A)
Make rs547940069(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position32807751
GeneDNMT3B
is asnp
is mentioned by
dbSNPrs547940069
ebirs547940069
HLIrs547940069
Exacrs547940069
Varsomers547940069
Maprs547940069
PheGenIrs547940069
hapmaprs547940069
1000 genomesrs547940069
hgdprs547940069
ensemblrs547940069
gopubmedrs547940069
geneviewrs547940069
scholarrs547940069
googlers547940069
pharmgkbrs547940069
gwascentralrs547940069
openSNPrs547940069
23andMers547940069
23andMe allrs547940069
SNP Nexus

SNPshotrs547940069
SNPdbers547940069
MSV3drs547940069
GWAS Ctlgrs547940069
Max Magnitude0
ClinVar
Risk rs547940069(A;A)
Alt rs547940069(A;A)
Reference rs547940069(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.31395557G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007133.4,