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rs386134184

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386134184(A;G)
Make rs386134184(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position201726868
GeneALS2
is asnp
is mentioned by
dbSNPrs386134184
ebirs386134184
HLIrs386134184
Exacrs386134184
Varsomers386134184
Maprs386134184
PheGenIrs386134184
hapmaprs386134184
1000 genomesrs386134184
hgdprs386134184
ensemblrs386134184
gopubmedrs386134184
geneviewrs386134184
scholarrs386134184
googlers386134184
pharmgkbrs386134184
gwascentralrs386134184
openSNPrs386134184
23andMers386134184
23andMe allrs386134184
SNP Nexus

SNPshotrs386134184
SNPdbers386134184
MSV3drs386134184
GWAS Ctlgrs386134184
Max Magnitude0
ClinVar
Risk rs386134184(G;G)
Alt rs386134184(G;G)
Reference rs386134184(A;A)
Significance Pathogenic
Disease Juvenile primary lateral sclerosis
Variation info
Gene ALS2
CLNDBN Juvenile primary lateral sclerosis
Reversed 1
HGVS NC_000002.11:g.202591591T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004666.5,


[PMID 19122027] A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.