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rs387906742

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906742(A;G)
Make rs387906742(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position101986236
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs387906742
ebirs387906742
HLIrs387906742
Exacrs387906742
Varsomers387906742
Maprs387906742
PheGenIrs387906742
hapmaprs387906742
1000 genomesrs387906742
hgdprs387906742
ensemblrs387906742
gopubmedrs387906742
geneviewrs387906742
scholarrs387906742
googlers387906742
pharmgkbrs387906742
gwascentralrs387906742
openSNPrs387906742
23andMers387906742
23andMe allrs387906742
SNP Nexus

SNPshotrs387906742
SNPdbers387906742
MSV3drs387906742
GWAS Ctlgrs387906742
Max Magnitude0
ClinVar
Risk rs387906742(G;G)
Alt rs387906742(G;G)
Reference rs387906742(A;A)
Significance Pathogenic
Disease Spinal muscular atrophy
Variation info
Gene DYNC1H1
CLNDBN Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
Reversed 0
HGVS NC_000014.8:g.102452573A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022933.3,