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rs587780564

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587780564(C;T)
Make rs587780564(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position101986017
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs587780564
ebirs587780564
HLIrs587780564
Exacrs587780564
Varsomers587780564
Maprs587780564
PheGenIrs587780564
hapmaprs587780564
1000 genomesrs587780564
hgdprs587780564
ensemblrs587780564
gopubmedrs587780564
geneviewrs587780564
scholarrs587780564
googlers587780564
pharmgkbrs587780564
gwascentralrs587780564
openSNPrs587780564
23andMers587780564
23andMe allrs587780564
SNP Nexus

SNPshotrs587780564
SNPdbers587780564
MSV3drs587780564
GWAS Ctlgrs587780564
Max Magnitude0
ClinVar
Risk rs587780564(T;T)
Alt rs587780564(T;T)
Reference rs587780564(C;C)
Significance Pathogenic
Disease Spinal muscular atrophy Hereditary motor and sensory neuropathy
Variation info
Gene DYNC1H1
CLNDBN Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant Hereditary motor and sensory neuropathy
Reversed 0
HGVS NC_000014.8:g.102452354C>T
CLNSRC
CLNACC RCV000144249.1, RCV000149555.1,