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rs387906740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906740(A;A)
Make rs387906740(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position102002546
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs387906740
ebirs387906740
HLIrs387906740
Exacrs387906740
Varsomers387906740
Maprs387906740
PheGenIrs387906740
hapmaprs387906740
1000 genomesrs387906740
hgdprs387906740
ensemblrs387906740
gopubmedrs387906740
geneviewrs387906740
scholarrs387906740
googlers387906740
pharmgkbrs387906740
gwascentralrs387906740
openSNPrs387906740
23andMers387906740
23andMe allrs387906740
SNP Nexus

SNPshotrs387906740
SNPdbers387906740
MSV3drs387906740
GWAS Ctlgrs387906740
Max Magnitude0
ClinVar
Risk rs387906740(A;A)
Alt rs387906740(A;A)
Reference rs387906740(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYNC1H1
CLNDBN Mental retardation, autosomal dominant 13
Reversed 0
HGVS NC_000014.8:g.102468883G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022931.3,