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rs386134176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs386134176(-;-)
Make rs386134176(-;AG)
ReferenceGRCh38 38.1/141
Chromosome2
Position201757447
GeneALS2
is asnp
is mentioned by
dbSNPrs386134176
ebirs386134176
HLIrs386134176
Exacrs386134176
Varsomers386134176
Maprs386134176
PheGenIrs386134176
hapmaprs386134176
1000 genomesrs386134176
hgdprs386134176
ensemblrs386134176
gopubmedrs386134176
geneviewrs386134176
scholarrs386134176
googlers386134176
pharmgkbrs386134176
gwascentralrs386134176
openSNPrs386134176
23andMers386134176
23andMe allrs386134176
SNP Nexus

SNPshotrs386134176
SNPdbers386134176
MSV3drs386134176
GWAS Ctlgrs386134176
Max Magnitude0
ClinVar
Risk rs386134176(;)
Alt rs386134176(;)
Reference rs386134176(AG;AG)
Significance Pathogenic
Disease Juvenile primary lateral sclerosis
Variation info
Gene ALS2
CLNDBN Juvenile primary lateral sclerosis
Reversed 1
HGVS NC_000002.11:g.202622170_202622171delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004657.4,


[PMID 11586297] The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.


[PMID 11586298] A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.