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rs386134178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134178(A;A)
Make rs386134178(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position201754524
GeneALS2
is asnp
is mentioned by
dbSNPrs386134178
ebirs386134178
HLIrs386134178
Exacrs386134178
Varsomers386134178
Maprs386134178
PheGenIrs386134178
hapmaprs386134178
1000 genomesrs386134178
hgdprs386134178
ensemblrs386134178
gopubmedrs386134178
geneviewrs386134178
scholarrs386134178
googlers386134178
pharmgkbrs386134178
gwascentralrs386134178
openSNPrs386134178
23andMers386134178
23andMe allrs386134178
SNP Nexus

SNPshotrs386134178
SNPdbers386134178
MSV3drs386134178
GWAS Ctlgrs386134178
Max Magnitude0
ClinVar
Risk rs386134178(A;A)
Alt rs386134178(A;A)
Reference rs386134178(G;G)
Significance Pathogenic
Disease Juvenile primary lateral sclerosis
Variation info
Gene ALS2
CLNDBN Juvenile primary lateral sclerosis
Reversed 1
HGVS NC_000002.11:g.202619247C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034964.1,


[PMID 16670179] The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.