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rs397509392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509392(C;T)
Make rs397509392(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position10154709
GeneDNMT1
is asnp
is mentioned by
dbSNPrs397509392
dbSNP (classic)rs397509392
ClinGenrs397509392
ebirs397509392
HLIrs397509392
Exacrs397509392
Gnomadrs397509392
Varsomers397509392
LitVarrs397509392
Maprs397509392
PheGenIrs397509392
Biobankrs397509392
1000 genomesrs397509392
hgdprs397509392
ensemblrs397509392
geneviewrs397509392
scholarrs397509392
googlers397509392
pharmgkbrs397509392
gwascentralrs397509392
openSNPrs397509392
23andMers397509392
SNPshotrs397509392
SNPdbers397509392
MSV3drs397509392
GWAS Ctlgrs397509392
Max Magnitude0
ClinVar
Risk rs397509392(G;G) rs397509392(T;T)
Alt rs397509392(G;G) rs397509392(T;T)
Reference Rs397509392(C;C)
Significance Pathogenic
Disease Cerebellar ataxia
Variation info
Gene DNMT1
CLNDBN Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Reversed 1
HGVS NC_000019.9:g.10265385G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043632.28,