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rs387906738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906738(A;G)
Make rs387906738(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position101980506
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs387906738
ebirs387906738
HLIrs387906738
Exacrs387906738
Varsomers387906738
Maprs387906738
PheGenIrs387906738
hapmaprs387906738
1000 genomesrs387906738
hgdprs387906738
ensemblrs387906738
gopubmedrs387906738
geneviewrs387906738
scholarrs387906738
googlers387906738
pharmgkbrs387906738
gwascentralrs387906738
openSNPrs387906738
23andMers387906738
23andMe allrs387906738
SNP Nexus

SNPshotrs387906738
SNPdbers387906738
MSV3drs387906738
GWAS Ctlgrs387906738
Max Magnitude0
ClinVar
Risk rs387906738(G;G)
Alt rs387906738(G;G)
Reference rs387906738(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Spinal muscular atrophy Charcot-Marie-Tooth disease
Variation info
Gene DYNC1H1
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2O Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000014.8:g.102446843A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022929.3, RCV000055662.2, RCV000192255.1,