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rs386134175

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs386134175(-;-)
Make rs386134175(-;TA)
ReferenceGRCh38 38.1/141
Chromosome2
Position201760986
GeneALS2
is asnp
is mentioned by
dbSNPrs386134175
ebirs386134175
HLIrs386134175
Exacrs386134175
Varsomers386134175
Maprs386134175
PheGenIrs386134175
hapmaprs386134175
1000 genomesrs386134175
hgdprs386134175
ensemblrs386134175
gopubmedrs386134175
geneviewrs386134175
scholarrs386134175
googlers386134175
pharmgkbrs386134175
gwascentralrs386134175
openSNPrs386134175
23andMers386134175
23andMe allrs386134175
SNP Nexus

SNPshotrs386134175
SNPdbers386134175
MSV3drs386134175
GWAS Ctlgrs386134175
Max Magnitude0
ClinVar
Risk rs386134175(;)
Alt rs386134175(;)
Reference rs386134175(TA;TA)
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.202625709_202625710delTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004661.5,


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