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rs387906743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906743(A;G)
Make rs387906743(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position101991567
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs387906743
ebirs387906743
HLIrs387906743
Exacrs387906743
Varsomers387906743
Maprs387906743
PheGenIrs387906743
hapmaprs387906743
1000 genomesrs387906743
hgdprs387906743
ensemblrs387906743
gopubmedrs387906743
geneviewrs387906743
scholarrs387906743
googlers387906743
pharmgkbrs387906743
gwascentralrs387906743
openSNPrs387906743
23andMers387906743
23andMe allrs387906743
SNP Nexus

SNPshotrs387906743
SNPdbers387906743
MSV3drs387906743
GWAS Ctlgrs387906743
Max Magnitude0
ClinVar
Risk rs387906743(G;G)
Alt rs387906743(G;G)
Reference rs387906743(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.102457904A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022934.3,