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rs397509410

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509410(G;T)
Make rs397509410(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position102032396
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs397509410
dbSNP (classic)rs397509410
ClinGenrs397509410
ebirs397509410
HLIrs397509410
Exacrs397509410
Gnomadrs397509410
Varsomers397509410
LitVarrs397509410
Maprs397509410
PheGenIrs397509410
Biobankrs397509410
1000 genomesrs397509410
hgdprs397509410
ensemblrs397509410
geneviewrs397509410
scholarrs397509410
googlers397509410
pharmgkbrs397509410
gwascentralrs397509410
openSNPrs397509410
23andMers397509410
SNPshotrs397509410
SNPdbers397509410
MSV3drs397509410
GWAS Ctlgrs397509410
Max Magnitude0
ClinVar
Risk rs397509410(T;T)
Alt rs397509410(T;T)
Reference Rs397509410(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYNC1H1
CLNDBN Mental retardation, autosomal dominant 13
Reversed 0
HGVS NC_000014.8:g.102498733G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000049270.2,