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rs387906741

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906741(A;C)
Make rs387906741(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position101985975
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs387906741
ebirs387906741
HLIrs387906741
Exacrs387906741
Varsomers387906741
Maprs387906741
PheGenIrs387906741
hapmaprs387906741
1000 genomesrs387906741
hgdprs387906741
ensemblrs387906741
gopubmedrs387906741
geneviewrs387906741
scholarrs387906741
googlers387906741
pharmgkbrs387906741
gwascentralrs387906741
openSNPrs387906741
23andMers387906741
23andMe allrs387906741
SNP Nexus

SNPshotrs387906741
SNPdbers387906741
MSV3drs387906741
GWAS Ctlgrs387906741
Max Magnitude0
ClinVar
Risk rs387906741(C;C)
Alt rs387906741(C;C)
Reference rs387906741(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.102452312A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022932.5,