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rs386134187

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386134187(-;-)
Make rs386134187(-;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position201723335
GeneALS2
is asnp
is mentioned by
dbSNPrs386134187
ebirs386134187
HLIrs386134187
Exacrs386134187
Varsomers386134187
Maprs386134187
PheGenIrs386134187
hapmaprs386134187
1000 genomesrs386134187
hgdprs386134187
ensemblrs386134187
gopubmedrs386134187
geneviewrs386134187
scholarrs386134187
googlers386134187
pharmgkbrs386134187
gwascentralrs386134187
openSNPrs386134187
23andMers386134187
23andMe allrs386134187
SNP Nexus

SNPshotrs386134187
SNPdbers386134187
MSV3drs386134187
GWAS Ctlgrs386134187
Max Magnitude0
ClinVar
Risk rs386134187(;)
Alt rs386134187(;)
Reference rs386134187(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.202588058delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004658.4,


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