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rs727505393

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727505393(G;T)
Make rs727505393(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position101997073
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs727505393
ebirs727505393
HLIrs727505393
Exacrs727505393
Varsomers727505393
Maprs727505393
PheGenIrs727505393
hapmaprs727505393
1000 genomesrs727505393
hgdprs727505393
ensemblrs727505393
gopubmedrs727505393
geneviewrs727505393
scholarrs727505393
googlers727505393
pharmgkbrs727505393
gwascentralrs727505393
openSNPrs727505393
23andMers727505393
23andMe allrs727505393
SNP Nexus

SNPshotrs727505393
SNPdbers727505393
MSV3drs727505393
GWAS Ctlgrs727505393
Max Magnitude0
ClinVar
Risk rs727505393(T;T)
Alt rs727505393(T;T)
Reference rs727505393(G;G)
Significance Pathogenic
Disease Mental retardation Spinal muscular atrophy
Variation info
Gene DYNC1H1
CLNDBN Mental retardation, autosomal dominant 13 Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
Reversed 0
HGVS NC_000014.8:g.102463410G>T
CLNSRC
CLNACC RCV000157064.2,