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rs387906739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906739(A;C)
Make rs387906739(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position102039416
GeneDYNC1H1, LOC107984661
is asnp
is mentioned by
dbSNPrs387906739
dbSNP (classic)rs387906739
ClinGenrs387906739
ebirs387906739
HLIrs387906739
Exacrs387906739
Gnomadrs387906739
Varsomers387906739
LitVarrs387906739
Maprs387906739
PheGenIrs387906739
Biobankrs387906739
1000 genomesrs387906739
hgdprs387906739
ensemblrs387906739
geneviewrs387906739
scholarrs387906739
googlers387906739
pharmgkbrs387906739
gwascentralrs387906739
openSNPrs387906739
23andMers387906739
SNPshotrs387906739
SNPdbers387906739
MSV3drs387906739
GWAS Ctlgrs387906739
Max Magnitude0
ClinVar
Risk rs387906739(C;C)
Alt rs387906739(C;C)
Reference Rs387906739(A;A)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYNC1H1
CLNDBN Mental retardation, autosomal dominant 13
Reversed 0
HGVS NC_000014.8:g.102505753A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022930.3,