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rs121908138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908138(A;A)
Make rs121908138(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position201761524
GeneALS2
is asnp
is mentioned by
dbSNPrs121908138
ebirs121908138
HLIrs121908138
Exacrs121908138
Varsomers121908138
Maprs121908138
PheGenIrs121908138
hapmaprs121908138
1000 genomesrs121908138
hgdprs121908138
ensemblrs121908138
gopubmedrs121908138
geneviewrs121908138
scholarrs121908138
googlers121908138
pharmgkbrs121908138
gwascentralrs121908138
openSNPrs121908138
23andMers121908138
23andMe allrs121908138
SNP Nexus

SNPshotrs121908138
SNPdbers121908138
MSV3drs121908138
GWAS Ctlgrs121908138
Max Magnitude0
OMIM606352
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908138(A;A)
Alt rs121908138(A;A)
Reference rs121908138(G;G)
Significance Pathogenic
Disease Infantile-onset ascending hereditary spastic paralysis
Variation info
Gene ALS2
CLNDBN Infantile-onset ascending hereditary spastic paralysis
Reversed 1
HGVS NC_000002.11:g.202626247C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004665.5,


[PMID 16718699] Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.