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rs397509412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509412(A;A)
Make rs397509412(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position102032419
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs397509412
dbSNP (classic)rs397509412
ClinGenrs397509412
ebirs397509412
HLIrs397509412
Exacrs397509412
Gnomadrs397509412
Varsomers397509412
LitVarrs397509412
Maprs397509412
PheGenIrs397509412
Biobankrs397509412
1000 genomesrs397509412
hgdprs397509412
ensemblrs397509412
geneviewrs397509412
scholarrs397509412
googlers397509412
pharmgkbrs397509412
gwascentralrs397509412
openSNPrs397509412
23andMers397509412
SNPshotrs397509412
SNPdbers397509412
MSV3drs397509412
GWAS Ctlgrs397509412
Max Magnitude0
ClinVar
Risk rs397509412(A;A)
Alt rs397509412(A;A)
Reference Rs397509412(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYNC1H1
CLNDBN Mental retardation, autosomal dominant 13
Reversed 0
HGVS NC_000014.8:g.102498756G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000049272.2,