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rs386134177

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTTCCCCCAG;TTTCCCCCAG) 0 common in clinvar
Make rs386134177(-;-)
Make rs386134177(-;TTTCCCCCAG)
ReferenceGRCh38 38.1/141
Chromosome2
Position201754662
GeneALS2
is asnp
is mentioned by
dbSNPrs386134177
ebirs386134177
HLIrs386134177
Exacrs386134177
Varsomers386134177
Maprs386134177
PheGenIrs386134177
hapmaprs386134177
1000 genomesrs386134177
hgdprs386134177
ensemblrs386134177
gopubmedrs386134177
geneviewrs386134177
scholarrs386134177
googlers386134177
pharmgkbrs386134177
gwascentralrs386134177
openSNPrs386134177
23andMers386134177
23andMe allrs386134177
SNP Nexus

SNPshotrs386134177
SNPdbers386134177
MSV3drs386134177
GWAS Ctlgrs386134177
Max Magnitude0
ClinVar
Risk rs386134177(;)
Alt rs386134177(;)
Reference rs386134177(TTTCCCCCAG;TTTCCCCCAG)
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.202619385_202619394delCTGGGGGAAA
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000004659.2,


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