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rs121909342

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909342(A;A)
Make rs121909342(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position74378104
GeneDCTN1
is asnp
is mentioned by
dbSNPrs121909342
ebirs121909342
HLIrs121909342
Exacrs121909342
Varsomers121909342
Maprs121909342
PheGenIrs121909342
hapmaprs121909342
1000 genomesrs121909342
hgdprs121909342
ensemblrs121909342
gopubmedrs121909342
geneviewrs121909342
scholarrs121909342
googlers121909342
pharmgkbrs121909342
gwascentralrs121909342
openSNPrs121909342
23andMers121909342
23andMe allrs121909342
SNP Nexus

SNPshotrs121909342
SNPdbers121909342
MSV3drs121909342
GWAS Ctlgrs121909342
Max Magnitude0
OMIM601143
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909342(A;A)
Alt rs121909342(A;A)
Reference rs121909342(G;G)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy type 7B
Variation info
Gene DCTN1
CLNDBN Distal hereditary motor neuronopathy type 7B
Reversed 1
HGVS NC_000002.11:g.74605231C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008909.3,