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rs386134188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386134188(-;-)
Make rs386134188(-;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position201704571
GeneALS2
is asnp
is mentioned by
dbSNPrs386134188
ebirs386134188
HLIrs386134188
Exacrs386134188
Varsomers386134188
Maprs386134188
PheGenIrs386134188
hapmaprs386134188
1000 genomesrs386134188
hgdprs386134188
ensemblrs386134188
gopubmedrs386134188
geneviewrs386134188
scholarrs386134188
googlers386134188
pharmgkbrs386134188
gwascentralrs386134188
openSNPrs386134188
23andMers386134188
23andMe allrs386134188
SNP Nexus

SNPshotrs386134188
SNPdbers386134188
MSV3drs386134188
GWAS Ctlgrs386134188
Max Magnitude0
ClinVar
Risk rs386134188(;)
Alt rs386134188(;)
Reference rs386134188(T;T)
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.202569294delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004662.4,


[PMID 12509863] An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.