Have questions? Visit https://www.reddit.com/r/SNPedia

rs386134183

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs386134183(-;-)
Make rs386134183(-;AT)
ReferenceGRCh38 38.1/141
Chromosome2
Position201733318
GeneALS2
is asnp
is mentioned by
dbSNPrs386134183
ebirs386134183
HLIrs386134183
Exacrs386134183
Varsomers386134183
Maprs386134183
PheGenIrs386134183
hapmaprs386134183
1000 genomesrs386134183
hgdprs386134183
ensemblrs386134183
gopubmedrs386134183
geneviewrs386134183
scholarrs386134183
googlers386134183
pharmgkbrs386134183
gwascentralrs386134183
openSNPrs386134183
23andMers386134183
23andMe allrs386134183
SNP Nexus

SNPshotrs386134183
SNPdbers386134183
MSV3drs386134183
GWAS Ctlgrs386134183
Max Magnitude0
ClinVar
Risk rs386134183(;)
Alt rs386134183(;)
Reference rs386134183(AT;AT)
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.202598041_202598042delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004660.5,


[PMID 12145748OA-icon.png] Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.