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rs386134182

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386134182(A;T)
Make rs386134182(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position201744431
GeneALS2
is asnp
is mentioned by
dbSNPrs386134182
ebirs386134182
HLIrs386134182
Exacrs386134182
Varsomers386134182
Maprs386134182
PheGenIrs386134182
hapmaprs386134182
1000 genomesrs386134182
hgdprs386134182
ensemblrs386134182
gopubmedrs386134182
geneviewrs386134182
scholarrs386134182
googlers386134182
pharmgkbrs386134182
gwascentralrs386134182
openSNPrs386134182
23andMers386134182
23andMe allrs386134182
SNP Nexus

SNPshotrs386134182
SNPdbers386134182
MSV3drs386134182
GWAS Ctlgrs386134182
Max Magnitude0
ClinVar
Risk rs386134182(T;T)
Alt rs386134182(T;T)
Reference rs386134182(A;A)
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.202609154T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034887.1,


[PMID 18810511] Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).