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rs397509393

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509393(C;C)
Make rs397509393(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position10154604
GeneDNMT1
is asnp
is mentioned by
dbSNPrs397509393
dbSNP (classic)rs397509393
ClinGenrs397509393
ebirs397509393
HLIrs397509393
Exacrs397509393
Gnomadrs397509393
Varsomers397509393
LitVarrs397509393
Maprs397509393
PheGenIrs397509393
Biobankrs397509393
1000 genomesrs397509393
hgdprs397509393
ensemblrs397509393
geneviewrs397509393
scholarrs397509393
googlers397509393
pharmgkbrs397509393
gwascentralrs397509393
openSNPrs397509393
23andMers397509393
SNPshotrs397509393
SNPdbers397509393
MSV3drs397509393
GWAS Ctlgrs397509393
Max Magnitude0
ClinVar
Risk rs397509393(C;C)
Alt rs397509393(C;C)
Reference Rs397509393(G;G)
Significance Pathogenic
Disease Cerebellar ataxia
Variation info
Gene DNMT1
CLNDBN Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Reversed 1
HGVS NC_000019.9:g.10265280C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043633.28,